AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia...AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia,nystagmus,corneal opacity,and keratopathy were included.Genetic analysis was carried out by Target Panel Sequencing,and the nucleotide variant was confirmed by Sanger sequencing.In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid(mRNA).RESULTS:Target panel sequencing revealed that the afflicted family members carried a novel frameshift mutation(NM_145178.4;c.91del G;p.Gly31Glyfs*55)that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.In silico studies predicted that the activity of the ATOH7 gene is probably affected by this mutation,which results in a shortened and nonfunctional protein.Three-dimensional structural analysis shows that DNA binding may be impacted by amino acid changes from non-polar to positively charged and vice versa(Arg42Pro and Pro18Arg),as well as from positively charged(Arg)to a small polar amino acid(Gly).CONCLUSION:A novel ATOH7 mutation is harmful.This study also emphasizes the potential effects of modified ATOH7 configurations on the stability and functionality of proteins.展开更多
X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the n...X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.展开更多
BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true a...BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true apex is occupied by the right ventricle.Due to the rarity of the disease,just a few case reports and limited case series have been published in the field.AIM To analysing the so far 37 reported ILVAH cases worldwide.METHODS The electronic databases PubMed and Scopus were investigated from their establishment up to December 13,2022.RESULTS The majority of cases reported occurred in males(52.7%).Mean age at diagnosis was 26.1±19.6 years.More than a third of the patients were asymptomatic(35.1%).The most usual clinical presentation was breathlessness(40.5%).The most commonly detected electrocardiogram changes were T wave abnormalities(29.7%)and right axis deviation with poor R wave progression(24.3%).Atrial fibrillation/flutter was detected in 24.3%.Echocardiography was performed in 97.3%of cases and cardiac MRI in 91.9%of cases.Ejection fraction was reduced in more than a half of patients(56.7%).An associated congenital heart disease was found in 16.2%.Heart failure therapy was administered in 35.1%of patients.The outcome was favorable in the vast majority of patients,with just one death.CONCLUSION ILVAH is a multifaceted entity with a so far unpredictable course,ranging from benign until the elderly to sudden death during adolescence.展开更多
Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we pre...Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268delA） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.展开更多
Background Pulmonary arterial hypoplasia is a common complication in complex cyanotic congenital heart disease. For extreme stenosis of the branch pulmonary arteries,which is not feasible for complete repair,palliativ...Background Pulmonary arterial hypoplasia is a common complication in complex cyanotic congenital heart disease. For extreme stenosis of the branch pulmonary arteries,which is not feasible for complete repair,palliative systemic-pulmonary shunt is needed to increase pulmonary blood flow and pulmonary tree growth as early as beyond 2 years old. Unfortunately,due to poor medical setting in local hospitals,there are still a small number of patient with severe hypoplastic pulmonary arteries in developing area who have failed to undergo appropriate surgical intervention till to teenagers even adults. In order to explore the resolution of the dilemma for these notable cyanotic patients,hence we began to utilize three-dimensional computed tomography(CT)to reconstruct pulmonary artery anatomy and to simulate virtual palliative systemic pulmonary shunt conduit module,to facilitate and improve the intraoperative aortopulmonary shunt performance. Methods FromApril 2011 to August 2018,13 consecutive patients undergoing aortopulmonary shunt with older age(13-35 years old)who missed the optimal timing for surgery were identified from 196 cases involving palliative systemic pulmonary shunt. An individually pre-designed prosthetic expanded poly tetra fluoroethylene(ePTFE)conduit was utilized based on the threedimensional enhanced computed tomography reconstruction and simulation. The post-operative recovery courses and complications were documented. Blood gas analysis,electrocardiogram,echocardiography were performed routinely prior to discharge and compared with the preoperative data. Re-evaluation of finger pulse saturation(SpO2),echocardiography and electrocardiogram was performed in clinical follow-up in 1 st month,6 th month,12 th month and every year postoperatively. A retrospective analysis of operative data,postoperative outcomes and complications were performed. Results All the 13 consecutive patients underwent successfully non-cardiopulmonary bypass systemic-pulmonary shunt with ePTFE conduits via median sternotomy. Postoperative thirtyday mortality was 1 in 13 due to pulmonary hemorrhage. During the follow-up,no more mortality was documented but a re-intervention for ePTFE conduit revision. For the 12 survivors,the postoperative SpO2,and arterial partial oxygen pressure(PaO2)on room air significantly increased from 68.0±2.42% to 88.46±4.67%(P<0.01),and from 42.61±3.94 mmhg to 49.62±1.76 mmhg(P<0.01),respectively. While the postoperative hematocrit and hemoglobin significantly decreased from 72.01±3.12% to 61.03±3.21%(P<0.01),and from 196.77±10.56 g/dL to 171.76±6.52 g/dL(P<0.01),respectively. Conclusions Appropriate systemic-pulmonary shunt based on threedimensional reconstruction and simulation can significantly alleviate the hypoxia with elevated oxygen saturation for severe cyanotic adolescent or adult patient with extreme pulmonary hypoplasia and unrepairable complex congenital heart disease,so as to improve their clinical symptoms and life quality,although it cannot promote secondary pulmonary artery development directly.展开更多
Background:Congenital thumb deformities account for one-third or more of all cases of congenital hand deformity.However,the current classification schemes of congenital thumb hypoplasia are no longer adequate due to t...Background:Congenital thumb deformities account for one-third or more of all cases of congenital hand deformity.However,the current classification schemes of congenital thumb hypoplasia are no longer adequate due to their lack of adaptability to increasing knowledge in the field.Hence,a modified system with the potential to adapt to ongoing advances in knowledge and understanding is desperately needed.Methods:Based on the photographs collected from thousands of cases of congenital deformities of the hand and upper limb over multiple decades in our department,we subdivided thumb hypoplasia according to the variables of morphological characteristics,anatomical structures,functional status,the relationship between thumb deformity and hand deformity,the relationship between congenital hand deformity syndrome and thumb hypoplasia,and the selection of treatment methods.Results:A total of 10 types were presented,which were elucidated with nomenclatures as well as pathological feature and symptoms.Conclusion:This modified system may shed additional light on the classification of congenital thumb anomalies,which will assist in a more effective selection of treatment modalities and offers significant benefits to both patients and practice.展开更多
Focal dermal hypoplasia(FDH)is a rare disorder of the mesodermal and ectodermal tissues.Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia.She was diagnosed wit...Focal dermal hypoplasia(FDH)is a rare disorder of the mesodermal and ectodermal tissues.Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia.She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis.She was successfully treated with argon plasma coagulation and ingested fluticasone propionate,which has not been described previously in a child.展开更多
The research is dedicated to the possibility of restoring cerebral blood supply in patients with brain vessels hypoplasia accompanied by migraine. The research involved 67 patients aged 29 - 58 (average age 42) with s...The research is dedicated to the possibility of restoring cerebral blood supply in patients with brain vessels hypoplasia accompanied by migraine. The research involved 67 patients aged 29 - 58 (average age 42) with severe migraine. The examination plan included laboratory diagnostics, assessment of dementia severity (CDR), assessment of cognitive impairment (MMSE), cerebral computed tomography (CT), cerebral magnetic resonance imaging (MRI), cerebral scintigraphy (SG), rheoencephalography (REG), cerebral multi-gated angiography (MUGA). Hypoplasia symptoms were detected in 56 (83.58%) patients. To improve cerebral blood supply, the method of transcateter laser revascularization by means of low-energy CW lasers was used. Good immediate angiographic outcome manifested in persistent improvement of the intracranial vascular bed and marked collateral vascularization was obtained in 53 (94.64%) patients. Good clinical outcome— almost complete regression of migraine and vestibular disorders—was obtained in 49 (87.50%) patients. Satisfactory clinical outcome—partial regression of migraine and vestibular disorders— was observed in 7 (12.50%) patients. The method of transcatheter laser revascularization of cerebral vessels is a physiological, effective and low-invasive treatment for patients suffering from cerebral vessels hypoplasia accompanied by migraine. This method has virtually no alternative;it stimulates natural angiogenesis causing collateral and capillary vascularization steadily improving the blood supply of the brain. The effect obtained after the treatment persists for a long time (9 years and longer), it causes regression of migraine, reduces mental disorders, and can improve the patients’ quality of life.展开更多
BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite ac...BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.展开更多
BACKGROUND Adult patients presenting with Angle Class II division 1 malocclusions that have a strong skeletal etiology can be challenging for clinicians,particularly if accompanied by retrognathia of the mandible and ...BACKGROUND Adult patients presenting with Angle Class II division 1 malocclusions that have a strong skeletal etiology can be challenging for clinicians,particularly if accompanied by retrognathia of the mandible and a dolichofacial growth pattern.CASE SUMMARY In this case report,we describe the successful orthodontic and surgical management of a 20-year-old woman with an Angle Class II malocclusion with a severe anteroposterior skeletal discrepancy characterized by mandibular deficiency.She had incompetent lips,dental and skeletal Class II malocclusion,high mandibular plane angle,mild mandibular crowding,and two missing maxillary first molars.The treatment plan comprised:(1)Extraction of two mandibular second premolars to decompensate and retract mandibular incisors;(2)pre-surgical alignment,leveling,and space closure of the teeth in both arches,and protraction of the second maxillary molars to close the maxillary space;(3)surgical treatment including a LeFort I osteotomy for maxillary retraction and rotation,a bilateral sagittal split osteotomy for mandibular advancement and rotation,and a genioplasty for correctting the skeletal deformities;and(4)post-surgical correction of the malocclusion.CONCLUSION The patient’s facial esthetics was significantly improved and a desirable occlusion was achieved after 16 mo treatment.Follow-up records after 2 years showed stable esthetics and function.展开更多
Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia w...Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia were evaluated clinically. Dental models and radiographs including (lateral cephalograms and orthopantographs) were obtained at the initial visit and upon completion of the presurgical orthodontic treatment. Patients with occlusal discrepancies larger than 6 mm and severe palatal scaring underwent Distraction osteogenesis (DO) to advance the maxilla. Patients with an occlusal discrepancy of 6 mm or less, underwent traditional orthognathic surgery including le fort I advancement and Bilateral sagittal split osteotomy (BSSO) to seat the mandible in occlusion. Results: Five patients underwent orthognathic surgery. Two of them underwent double jaw surgery. Three underwent single jaw conventional le fort l advancement. Four patients required bone grafting to repair the residual alveolar defect and to augment the midface deficiency. Nine patients with severe maxillary hypoplasia underwent maxillary advancement using distraction osteogenesis. Conclusion: Patients with a severe maxillary hypoplasia of 6 mm or more and excessive palatal scaring are successfully treated with DO. Conventional le fort I is reserved for patients with less severe maxillary hypoplasia. Both techniques gave promising results providing having followed the proper selection criteria.展开更多
Influenza-associated encephalopathy (IAE) can perform as varying patterns of neuroimaging. Central brain herniation (CBH) secondary to IAE is rare;it may be a bad prognosis. Here, we presented a 4-year-old girl with i...Influenza-associated encephalopathy (IAE) can perform as varying patterns of neuroimaging. Central brain herniation (CBH) secondary to IAE is rare;it may be a bad prognosis. Here, we presented a 4-year-old girl with influenza who had a pontocerebellar hypoplasia (PCH) history;she performed the second Magnetic Resonance Imaging (MRI) on Day 6 from onset, showed the diffuse edema and the occurrence of central herniation;the medulla was “Z-like” folded and the basal cisterns were obliterated completely. Finally she was declared dead. The imbalance between supratentorial and infratentorial pressure can lead to the occurrence of CBH. Severe edema relates to IAE and unstable structure of the posterior fossa might be the main reason for the herniation. MRI is helpful in early diagnosis. Early treatment of cerebral edema in patients with congenital abnormalities of the posterior fossa is vital for their management.展开更多
Unilateral ovarian hypoplasia is a rare event with unknown true incidence. Our knowledge about this developmental anomaly is limited and based primarily on case reports. Ovarian hypoplasia is usually asymptomatic;it i...Unilateral ovarian hypoplasia is a rare event with unknown true incidence. Our knowledge about this developmental anomaly is limited and based primarily on case reports. Ovarian hypoplasia is usually asymptomatic;it is most commonly diagnosed from laparoscopy for other indications. Here we report two cases of unilateral ovarian hypoplasia in patients who presented to the Continuum Reproductive Center with primary infertility. After initial infertility workup, both patients underwent diagnostic laparoscopy for suspected tubal disease. In each case, operative findings were consistent with unilateral ovarian hypoplasia. Following the surgery, one patient underwent in vitro fertilization and achieved an ongoing pregnancy. The other conceived spontaneously, but was diagnosed with an ectopic pregnancy.展开更多
Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases a...Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases at the department of pneumophtisiology of the University Teaching Hospital of Point G. The first case is a young adult who was complaining of a chronic cough. Etiological investigation required several exams including spirometry and Computed tomographic scan (CT scan). After elimination of all suspected causes of pulmonary opacity, the diagnosis of pulmonary hypoplasia was retained. The second case is a 2-year-old girl who was born with congenital cardiopathy whose respiratory complications were increasing during her childhood and respiratory explorations discovered pulmonary agenesis. Pulmonary hypoplasia is rare in our medical practice, but attention must be drawn to a retractile pulmonary opacity in young age after elimination of all infectious causes in TB endemic area.展开更多
CCD （cleidocranial dysplasia） is a kind of rare congenital skeletal dysplasia and deformity. It has rare clinical syndrome, such as forehead radius, small maxilla ofa cial, wide long distance eye, collapse nose, wid...CCD （cleidocranial dysplasia） is a kind of rare congenital skeletal dysplasia and deformity. It has rare clinical syndrome, such as forehead radius, small maxilla ofa cial, wide long distance eye, collapse nose, widening cranial suture, incompleted closure of the frontal, clavicle hypoplasia, increased range of shoulder motion and other abnormalities. Often accompanied by teeth hypoplasia or impacted, through a careful observation of the clinical morphology, case history and X-ray examination can confirm the diagnosis.展开更多
Pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other congenital anomalies. Clinical symptoms vary depending on the other system anomalies and severity of pulmonary hypoplasia. A...Pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other congenital anomalies. Clinical symptoms vary depending on the other system anomalies and severity of pulmonary hypoplasia. Although it is usually diagnosed in infancy and childhood, some cases do not show any symptoms until the adolescent ages. In adolescents and adults with unilateral hypolucent lung, although it is seen rarely, pulmonary hypoplasia should always be kept in mind. In this article, we present a case with pulmonary hypoplasia who remained asymptomatic until puberty.展开更多
Left ventricular isolated hypoplasia is a seldom-described cardiac abnormality.Right ventricular hypoplasia is usually associated with congenital anomalies of the pulmonary or the tricuspid valve,whereas biventricular...Left ventricular isolated hypoplasia is a seldom-described cardiac abnormality.Right ventricular hypoplasia is usually associated with congenital anomalies of the pulmonary or the tricuspid valve,whereas biventricular isolated apical hypoplasia has never been described.We report the case of a 48-year-old man with no history of known cardiac disease who was found to have a complex cardiac abnormality characterized by:1)Deficiency of the myocardium within the biventricular apex with adipose tissue infiltration;2)Truncated right ventricle because of an absent trabecular portion of the inflow tract;3)Truncated and spherical left ventricular apex;4)Origin of the mitral papillary muscle in the flattened anterior left ventricular apex.Multimodality imaging was performed to delineate the morphological and functional characteristics of this cardiomyopathy fully.To the best of our knowledge,this is the first description of a new cardiac abnormality characterized by the hypoplasia of the apical region of both ventricles in the absence of valvular or coronary artery disease.展开更多
Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. Congenital absence or hypoplasia of facial muscles has not been known except for the depressor anguli oris mus...Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. Congenital absence or hypoplasia of facial muscles has not been known except for the depressor anguli oris muscle. Even, congenital unilateral hypoplasia of the orbicularis oris muscle cause of unilateral upper lip palsy has not been reported in the literature up to day. In this report, we present a patient with congenital unilateral upper lip palsy although the facial nerve was normal.展开更多
Background：There are few studies for evaluating wall characteristics of intracranial vertebral artery hypoplasia （VAH）.The aim of this study was to determine wall characteristics of VAH with three-dimensional volum...Background：There are few studies for evaluating wall characteristics of intracranial vertebral artery hypoplasia （VAH）.The aim of this study was to determine wall characteristics of VAH with three-dimensional volumetric isotropic turbo spin echo acquisition （3D VISTA） images and differentiate between acquired atherosclerotic stenosis and VAH.Methods：Thirty patients with suspicious VAH by luminograms were retrospectively enrolled between January 2014 and February 2015.The patients were classified as ＂acquired atherosclerotic stenosis＂ or ＂VAH＂ based on 3D VISTA images.The wall characteristics of VAH were assessed to determine the presence of atherosclerotic lesions,and the patients were classified into two subgroups （VAH with atherosclerosis and VAH with normal wall）.Wall characteristics of basilar arteries and vertebral arteries were also assessed.The clinical and wall characteristics were compared between the two groups.Results：Five of 30 patients with suspicious VAH were finally diagnosed as acquired atherosclerotic stenosis by 3D VISTA images.25 patients were finally diagnosed as VAH including 16 （64.00%） patients with atherosclerosis and 9 （36.00%） patients with normal wall.In the 16 patients with atherosclerosis,plaque was found in 9 patients,slight wall thickening in 6 patients,and thrombus and wall thickening in 1 patient.Compared with VAH patients with normal wall,VAH patients with atherosclerosis showed atherosclerotic basilar arteries and dominant vertebral arteries more frequently （P =0.000）.Conclusions：Three-dimensional VISTA images enable differentiation between the acquired atherosclerotic stenosis and VAH.VAH was also prone to atherosclerotic processes.展开更多
文摘AIM:To detect and segregate causative mutations in congenital families with optic nerve hypoplasia(ONH).M E T H O D S:Two unrel a ted consanguineous Pakistani families with severe ONH,showing features of micropthalmia,nystagmus,corneal opacity,and keratopathy were included.Genetic analysis was carried out by Target Panel Sequencing,and the nucleotide variant was confirmed by Sanger sequencing.In silico analyses were carried out to study the protein order-disorder functions and their effects on messenger ribonucleic acid(mRNA).RESULTS:Target panel sequencing revealed that the afflicted family members carried a novel frameshift mutation(NM_145178.4;c.91del G;p.Gly31Glyfs*55)that ensued in the conservation of an amino acid residue in the bHLH domain of ATOH7 protein.In silico studies predicted that the activity of the ATOH7 gene is probably affected by this mutation,which results in a shortened and nonfunctional protein.Three-dimensional structural analysis shows that DNA binding may be impacted by amino acid changes from non-polar to positively charged and vice versa(Arg42Pro and Pro18Arg),as well as from positively charged(Arg)to a small polar amino acid(Gly).CONCLUSION:A novel ATOH7 mutation is harmful.This study also emphasizes the potential effects of modified ATOH7 configurations on the stability and functionality of proteins.
基金the Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians(No.PEGRF201607001).
文摘X-linked congenital adrenal hypoplasia is characterised by the acute onset of primary adrenal insufficiency in infancy or early childhood and hypogonadotropic hypogonadism(HH)at puberty,arising from mutations of the nuclear receptor subfamily 0 group B member 1(NR0B1)gene.This study investigated an extended family with two affected males(patient A:23 years and patient B:2 months old)and three carrier females.Sequencing analysis of the NR0B1 gene coding region from the family revealed a novel hemizygous deletion[c.604delT;p.(C202Afs*62)]in the two male patients.Furthermore,the patients'respective mothers and their common grandmother had this heterozygous mutation,but it was not present in the Human Gene Mutation Database.The two male patients showed inconsistent clinical features at onset,particularly in early childhood;however,it is possible that the younger patient will eventually show a delay of puberty,feminisation,and nonspermatogenesis in adulthood,similar to that in the older patient.Identification of a novel NR0BI mutation in this family is important for the diagnosis and genetic counselling of children with primary adrenal insufficiency and HH,and will be helpful for predicting long-term clinical symptoms.
文摘BACKGROUND Isolated left ventricular apical hypoplasia(ILVAH),also known as truncated left ventricle(LV),is a very unusual cardiomyopathy.It is characterised by a truncated,spherical,and non-apex forming LV.The true apex is occupied by the right ventricle.Due to the rarity of the disease,just a few case reports and limited case series have been published in the field.AIM To analysing the so far 37 reported ILVAH cases worldwide.METHODS The electronic databases PubMed and Scopus were investigated from their establishment up to December 13,2022.RESULTS The majority of cases reported occurred in males(52.7%).Mean age at diagnosis was 26.1±19.6 years.More than a third of the patients were asymptomatic(35.1%).The most usual clinical presentation was breathlessness(40.5%).The most commonly detected electrocardiogram changes were T wave abnormalities(29.7%)and right axis deviation with poor R wave progression(24.3%).Atrial fibrillation/flutter was detected in 24.3%.Echocardiography was performed in 97.3%of cases and cardiac MRI in 91.9%of cases.Ejection fraction was reduced in more than a half of patients(56.7%).An associated congenital heart disease was found in 16.2%.Heart failure therapy was administered in 35.1%of patients.The outcome was favorable in the vast majority of patients,with just one death.CONCLUSION ILVAH is a multifaceted entity with a so far unpredictable course,ranging from benign until the elderly to sudden death during adolescence.
基金Project supported by the Department of Education of Zhejiang Province(No.Y201430646),China
文摘Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268delA） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.
基金supported by Medical Scientific Research Foundation of Guangdong Province,China (No.A2018038)
文摘Background Pulmonary arterial hypoplasia is a common complication in complex cyanotic congenital heart disease. For extreme stenosis of the branch pulmonary arteries,which is not feasible for complete repair,palliative systemic-pulmonary shunt is needed to increase pulmonary blood flow and pulmonary tree growth as early as beyond 2 years old. Unfortunately,due to poor medical setting in local hospitals,there are still a small number of patient with severe hypoplastic pulmonary arteries in developing area who have failed to undergo appropriate surgical intervention till to teenagers even adults. In order to explore the resolution of the dilemma for these notable cyanotic patients,hence we began to utilize three-dimensional computed tomography(CT)to reconstruct pulmonary artery anatomy and to simulate virtual palliative systemic pulmonary shunt conduit module,to facilitate and improve the intraoperative aortopulmonary shunt performance. Methods FromApril 2011 to August 2018,13 consecutive patients undergoing aortopulmonary shunt with older age(13-35 years old)who missed the optimal timing for surgery were identified from 196 cases involving palliative systemic pulmonary shunt. An individually pre-designed prosthetic expanded poly tetra fluoroethylene(ePTFE)conduit was utilized based on the threedimensional enhanced computed tomography reconstruction and simulation. The post-operative recovery courses and complications were documented. Blood gas analysis,electrocardiogram,echocardiography were performed routinely prior to discharge and compared with the preoperative data. Re-evaluation of finger pulse saturation(SpO2),echocardiography and electrocardiogram was performed in clinical follow-up in 1 st month,6 th month,12 th month and every year postoperatively. A retrospective analysis of operative data,postoperative outcomes and complications were performed. Results All the 13 consecutive patients underwent successfully non-cardiopulmonary bypass systemic-pulmonary shunt with ePTFE conduits via median sternotomy. Postoperative thirtyday mortality was 1 in 13 due to pulmonary hemorrhage. During the follow-up,no more mortality was documented but a re-intervention for ePTFE conduit revision. For the 12 survivors,the postoperative SpO2,and arterial partial oxygen pressure(PaO2)on room air significantly increased from 68.0±2.42% to 88.46±4.67%(P<0.01),and from 42.61±3.94 mmhg to 49.62±1.76 mmhg(P<0.01),respectively. While the postoperative hematocrit and hemoglobin significantly decreased from 72.01±3.12% to 61.03±3.21%(P<0.01),and from 196.77±10.56 g/dL to 171.76±6.52 g/dL(P<0.01),respectively. Conclusions Appropriate systemic-pulmonary shunt based on threedimensional reconstruction and simulation can significantly alleviate the hypoxia with elevated oxygen saturation for severe cyanotic adolescent or adult patient with extreme pulmonary hypoplasia and unrepairable complex congenital heart disease,so as to improve their clinical symptoms and life quality,although it cannot promote secondary pulmonary artery development directly.
文摘Background:Congenital thumb deformities account for one-third or more of all cases of congenital hand deformity.However,the current classification schemes of congenital thumb hypoplasia are no longer adequate due to their lack of adaptability to increasing knowledge in the field.Hence,a modified system with the potential to adapt to ongoing advances in knowledge and understanding is desperately needed.Methods:Based on the photographs collected from thousands of cases of congenital deformities of the hand and upper limb over multiple decades in our department,we subdivided thumb hypoplasia according to the variables of morphological characteristics,anatomical structures,functional status,the relationship between thumb deformity and hand deformity,the relationship between congenital hand deformity syndrome and thumb hypoplasia,and the selection of treatment methods.Results:A total of 10 types were presented,which were elucidated with nomenclatures as well as pathological feature and symptoms.Conclusion:This modified system may shed additional light on the classification of congenital thumb anomalies,which will assist in a more effective selection of treatment modalities and offers significant benefits to both patients and practice.
文摘Focal dermal hypoplasia(FDH)is a rare disorder of the mesodermal and ectodermal tissues.Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia.She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis.She was successfully treated with argon plasma coagulation and ingested fluticasone propionate,which has not been described previously in a child.
文摘The research is dedicated to the possibility of restoring cerebral blood supply in patients with brain vessels hypoplasia accompanied by migraine. The research involved 67 patients aged 29 - 58 (average age 42) with severe migraine. The examination plan included laboratory diagnostics, assessment of dementia severity (CDR), assessment of cognitive impairment (MMSE), cerebral computed tomography (CT), cerebral magnetic resonance imaging (MRI), cerebral scintigraphy (SG), rheoencephalography (REG), cerebral multi-gated angiography (MUGA). Hypoplasia symptoms were detected in 56 (83.58%) patients. To improve cerebral blood supply, the method of transcateter laser revascularization by means of low-energy CW lasers was used. Good immediate angiographic outcome manifested in persistent improvement of the intracranial vascular bed and marked collateral vascularization was obtained in 53 (94.64%) patients. Good clinical outcome— almost complete regression of migraine and vestibular disorders—was obtained in 49 (87.50%) patients. Satisfactory clinical outcome—partial regression of migraine and vestibular disorders— was observed in 7 (12.50%) patients. The method of transcatheter laser revascularization of cerebral vessels is a physiological, effective and low-invasive treatment for patients suffering from cerebral vessels hypoplasia accompanied by migraine. This method has virtually no alternative;it stimulates natural angiogenesis causing collateral and capillary vascularization steadily improving the blood supply of the brain. The effect obtained after the treatment persists for a long time (9 years and longer), it causes regression of migraine, reduces mental disorders, and can improve the patients’ quality of life.
基金Supported by the National Natural Science Foundation of China,No. 81701930
文摘BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.
基金Supported by the Natural Science Foundation of Jiangsu,No. SBK2021021787Nanjing Key Project Foundation,No. ZKX20048
文摘BACKGROUND Adult patients presenting with Angle Class II division 1 malocclusions that have a strong skeletal etiology can be challenging for clinicians,particularly if accompanied by retrognathia of the mandible and a dolichofacial growth pattern.CASE SUMMARY In this case report,we describe the successful orthodontic and surgical management of a 20-year-old woman with an Angle Class II malocclusion with a severe anteroposterior skeletal discrepancy characterized by mandibular deficiency.She had incompetent lips,dental and skeletal Class II malocclusion,high mandibular plane angle,mild mandibular crowding,and two missing maxillary first molars.The treatment plan comprised:(1)Extraction of two mandibular second premolars to decompensate and retract mandibular incisors;(2)pre-surgical alignment,leveling,and space closure of the teeth in both arches,and protraction of the second maxillary molars to close the maxillary space;(3)surgical treatment including a LeFort I osteotomy for maxillary retraction and rotation,a bilateral sagittal split osteotomy for mandibular advancement and rotation,and a genioplasty for correctting the skeletal deformities;and(4)post-surgical correction of the malocclusion.CONCLUSION The patient’s facial esthetics was significantly improved and a desirable occlusion was achieved after 16 mo treatment.Follow-up records after 2 years showed stable esthetics and function.
文摘Objectives: We report our experience and the protocol we used in managing maxillary hypoplasia in cleft lip and palate patients. Patients and methods: 14 adult cleft lip and palate patients with maxillary hypoplasia were evaluated clinically. Dental models and radiographs including (lateral cephalograms and orthopantographs) were obtained at the initial visit and upon completion of the presurgical orthodontic treatment. Patients with occlusal discrepancies larger than 6 mm and severe palatal scaring underwent Distraction osteogenesis (DO) to advance the maxilla. Patients with an occlusal discrepancy of 6 mm or less, underwent traditional orthognathic surgery including le fort I advancement and Bilateral sagittal split osteotomy (BSSO) to seat the mandible in occlusion. Results: Five patients underwent orthognathic surgery. Two of them underwent double jaw surgery. Three underwent single jaw conventional le fort l advancement. Four patients required bone grafting to repair the residual alveolar defect and to augment the midface deficiency. Nine patients with severe maxillary hypoplasia underwent maxillary advancement using distraction osteogenesis. Conclusion: Patients with a severe maxillary hypoplasia of 6 mm or more and excessive palatal scaring are successfully treated with DO. Conventional le fort I is reserved for patients with less severe maxillary hypoplasia. Both techniques gave promising results providing having followed the proper selection criteria.
文摘Influenza-associated encephalopathy (IAE) can perform as varying patterns of neuroimaging. Central brain herniation (CBH) secondary to IAE is rare;it may be a bad prognosis. Here, we presented a 4-year-old girl with influenza who had a pontocerebellar hypoplasia (PCH) history;she performed the second Magnetic Resonance Imaging (MRI) on Day 6 from onset, showed the diffuse edema and the occurrence of central herniation;the medulla was “Z-like” folded and the basal cisterns were obliterated completely. Finally she was declared dead. The imbalance between supratentorial and infratentorial pressure can lead to the occurrence of CBH. Severe edema relates to IAE and unstable structure of the posterior fossa might be the main reason for the herniation. MRI is helpful in early diagnosis. Early treatment of cerebral edema in patients with congenital abnormalities of the posterior fossa is vital for their management.
文摘Unilateral ovarian hypoplasia is a rare event with unknown true incidence. Our knowledge about this developmental anomaly is limited and based primarily on case reports. Ovarian hypoplasia is usually asymptomatic;it is most commonly diagnosed from laparoscopy for other indications. Here we report two cases of unilateral ovarian hypoplasia in patients who presented to the Continuum Reproductive Center with primary infertility. After initial infertility workup, both patients underwent diagnostic laparoscopy for suspected tubal disease. In each case, operative findings were consistent with unilateral ovarian hypoplasia. Following the surgery, one patient underwent in vitro fertilization and achieved an ongoing pregnancy. The other conceived spontaneously, but was diagnosed with an ectopic pregnancy.
文摘Pulmonary hypoplasia is a rare disease characterized by a defect of lung development more often unilateral. The diagnosis requires several exams to eliminate other causes of pulmonary retraction. We report two cases at the department of pneumophtisiology of the University Teaching Hospital of Point G. The first case is a young adult who was complaining of a chronic cough. Etiological investigation required several exams including spirometry and Computed tomographic scan (CT scan). After elimination of all suspected causes of pulmonary opacity, the diagnosis of pulmonary hypoplasia was retained. The second case is a 2-year-old girl who was born with congenital cardiopathy whose respiratory complications were increasing during her childhood and respiratory explorations discovered pulmonary agenesis. Pulmonary hypoplasia is rare in our medical practice, but attention must be drawn to a retractile pulmonary opacity in young age after elimination of all infectious causes in TB endemic area.
文摘CCD （cleidocranial dysplasia） is a kind of rare congenital skeletal dysplasia and deformity. It has rare clinical syndrome, such as forehead radius, small maxilla ofa cial, wide long distance eye, collapse nose, widening cranial suture, incompleted closure of the frontal, clavicle hypoplasia, increased range of shoulder motion and other abnormalities. Often accompanied by teeth hypoplasia or impacted, through a careful observation of the clinical morphology, case history and X-ray examination can confirm the diagnosis.
文摘Pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other congenital anomalies. Clinical symptoms vary depending on the other system anomalies and severity of pulmonary hypoplasia. Although it is usually diagnosed in infancy and childhood, some cases do not show any symptoms until the adolescent ages. In adolescents and adults with unilateral hypolucent lung, although it is seen rarely, pulmonary hypoplasia should always be kept in mind. In this article, we present a case with pulmonary hypoplasia who remained asymptomatic until puberty.
文摘Left ventricular isolated hypoplasia is a seldom-described cardiac abnormality.Right ventricular hypoplasia is usually associated with congenital anomalies of the pulmonary or the tricuspid valve,whereas biventricular isolated apical hypoplasia has never been described.We report the case of a 48-year-old man with no history of known cardiac disease who was found to have a complex cardiac abnormality characterized by:1)Deficiency of the myocardium within the biventricular apex with adipose tissue infiltration;2)Truncated right ventricle because of an absent trabecular portion of the inflow tract;3)Truncated and spherical left ventricular apex;4)Origin of the mitral papillary muscle in the flattened anterior left ventricular apex.Multimodality imaging was performed to delineate the morphological and functional characteristics of this cardiomyopathy fully.To the best of our knowledge,this is the first description of a new cardiac abnormality characterized by the hypoplasia of the apical region of both ventricles in the absence of valvular or coronary artery disease.
文摘Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. Congenital absence or hypoplasia of facial muscles has not been known except for the depressor anguli oris muscle. Even, congenital unilateral hypoplasia of the orbicularis oris muscle cause of unilateral upper lip palsy has not been reported in the literature up to day. In this report, we present a patient with congenital unilateral upper lip palsy although the facial nerve was normal.
基金Source of Support： This study was supported by grants from China Postdoctoral Science Foundation （No. 2014M562633）, China-Japan Friendship Hospital Youth Science and Technology Excellence Project （No. 2014-QNYC-A-04）, National Natural Science Foundation of China （No. 81173595, 30670731, 81070925, and 81471767）, and National Basic Research Program （973 Program） of China （No. 2013CB733805）.
文摘Background：There are few studies for evaluating wall characteristics of intracranial vertebral artery hypoplasia （VAH）.The aim of this study was to determine wall characteristics of VAH with three-dimensional volumetric isotropic turbo spin echo acquisition （3D VISTA） images and differentiate between acquired atherosclerotic stenosis and VAH.Methods：Thirty patients with suspicious VAH by luminograms were retrospectively enrolled between January 2014 and February 2015.The patients were classified as ＂acquired atherosclerotic stenosis＂ or ＂VAH＂ based on 3D VISTA images.The wall characteristics of VAH were assessed to determine the presence of atherosclerotic lesions,and the patients were classified into two subgroups （VAH with atherosclerosis and VAH with normal wall）.Wall characteristics of basilar arteries and vertebral arteries were also assessed.The clinical and wall characteristics were compared between the two groups.Results：Five of 30 patients with suspicious VAH were finally diagnosed as acquired atherosclerotic stenosis by 3D VISTA images.25 patients were finally diagnosed as VAH including 16 （64.00%） patients with atherosclerosis and 9 （36.00%） patients with normal wall.In the 16 patients with atherosclerosis,plaque was found in 9 patients,slight wall thickening in 6 patients,and thrombus and wall thickening in 1 patient.Compared with VAH patients with normal wall,VAH patients with atherosclerosis showed atherosclerotic basilar arteries and dominant vertebral arteries more frequently （P =0.000）.Conclusions：Three-dimensional VISTA images enable differentiation between the acquired atherosclerotic stenosis and VAH.VAH was also prone to atherosclerotic processes.
