Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 38.981
Filtrar
1.
Sci Rep ; 12(1): 7515, 2022 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-35525891

RESUMO

Congenital neutropenia (CN) is a hematological disease heterogeneous in its genetic, phenotypic and histologic aspects. We aimed to identify the genetic etiology of Korean CN patients in the context of bone marrow (BM) histology and clinical phenotype. Whole-exome sequencing (WES) or targeted sequencing was performed on the BM or peripheral blood specimens of 16 patients diagnosed with CN based on BM exam from 2009 to 2018. Absolute count of myeloperoxidase (MPO)-positive cells was calculated using ImageJ software. Semi-quantitation of MPO-positive cells in BM sections was performed by MPO grading (grades 0-3). Comprehensive retrospective review on real-world data of 345 pediatric patients with neutropenia including 16 patients in this study during the same period was performed. Seven disease-causing variants were identified in ELANE, G6PC3 and CXCR4 in 7 patients. A novel homozygous G6PC3 variant (K72fs) of which the mechanism was copy-neutral loss of heterozygosity was detected in two brothers. A low myeloid-to-erythroid ratio (0.5-1.5) was consistently observed in patients with ELANE mutations, while MPO-positive cells (40%-50%) with MPO grade 1 or 2 were detected in myelokathexis caused by G6PC3 and CXCR4 mutations. Meanwhile, disease-causing variants were detected in ELANE, TAZ and SLC37A4 in 5 patients by retrospective review of medical records. Our results suggest that following the immunological study and BM exam, WES or an expanded next generation sequencing panel that covers genes related to immunodeficiency and other inherited bone marrow failures as well as CN is recommended for neutropenia patient diagnosis.


Assuntos
Neutropenia , Antiporters/genética , Criança , Síndrome Congênita de Insuficiência da Medula Óssea , Humanos , Masculino , Proteínas de Transporte de Monossacarídeos/genética , Mutação , Neutropenia/congênito , Neutropenia/patologia , Fenótipo , República da Coreia , Sequenciamento Completo do Exoma
2.
Ir Med J ; 115(3): 566, 2022 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-35532911

RESUMO

Presentation We present a case of spontaneous coronary artery dissection (SCAD) in a 35-year-old lady who was 4 months post-partum. Despite a lack of typical risk factors, initial presentation and investigations were strongly suggestive of ACS. Diagnosis Coronary angiography revealed an occluded proximal left anterior descending (LAD) artery with TIMI 0 flow. Angiographic appearances and intravascular ultrasound (IVUS) were consistent with SCAD. Treatment A single drug-eluting stent was deployed, successfully restoring good flow, without extending the dissection flap. Discussion SCAD should be considered as an important and underdiagnosed cause of ACS, predominantly in young women without other apparent risk factors.


Assuntos
Anomalias dos Vasos Coronários , Stents Farmacológicos , Adulto , Anomalias dos Vasos Coronários/diagnóstico por imagem , Feminino , Humanos , Período Pós-Parto , Doenças Vasculares/congênito
3.
BMC Med ; 20(1): 162, 2022 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-35501785

RESUMO

BACKGROUND: Congenital long QT syndrome (LQTS) is a rare heart disease caused by various underlying mutations. Most general cardiologists do not routinely see patients with congenital LQTS and may not always recognize the accompanying ECG features. In addition, a proportion of disease carriers do not display obvious abnormalities on their ECG. Combined, this can cause underdiagnosing of this potentially life-threatening disease. METHODS: This study presents 1D convolutional neural network models trained to identify genotype positive LQTS patients from electrocardiogram as input. The deep learning (DL) models were trained with a large 10-s 12-lead ECGs dataset provided by Amsterdam UMC and externally validated with a dataset provided by University Hospital Leuven. The Amsterdam dataset included ECGs from 10000 controls, 172 LQTS1, 214 LQTS2, and 72 LQTS3 patients. The Leuven dataset included ECGs from 2200 controls, 32 LQTS1, and 80 LQTS2 patients. The performance of the DL models was compared with conventional QTc measurement and with that of an international expert in congenital LQTS (A.A.M.W). Lastly, an explainable artificial intelligence (AI) technique was used to better understand the prediction models. RESULTS: Overall, the best performing DL models, across 5-fold cross-validation, achieved on average a sensitivity of 84 ± 2%, 90 ± 2% and 87 ± 6%, specificity of 96 ± 2%, 95 ± 1%, and 92 ± 4%, and AUC of 0.90 ± 0.01, 0.92 ± 0.02, and 0.89 ± 0.03, for LQTS 1, 2, and 3 respectively. The DL models were also shown to perform better than conventional QTc measurements in detecting LQTS patients. Furthermore, the performances held up when the DL models were validated on a novel external cohort and outperformed the expert cardiologist in terms of specificity, while in terms of sensitivity, the DL models and the expert cardiologist in LQTS performed the same. Finally, the explainable AI technique identified the onset of the QRS complex as the most informative region to classify LQTS from non-LQTS patients, a feature previously not associated with this disease. CONCLUSIONS: This study suggests that DL models can potentially be used to aid cardiologists in diagnosing LQTS. Furthermore, explainable DL models can be used to possibly identify new features for LQTS on the ECG, thus increasing our understanding of this syndrome.


Assuntos
Aprendizado Profundo , Síndrome do QT Longo , Inteligência Artificial , Eletrocardiografia/métodos , Humanos , Síndrome do QT Longo/congênito , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/genética , Redes Neurais de Computação
5.
Taiwan J Obstet Gynecol ; 61(2): 385-387, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35361408

RESUMO

OBJECTIVE: Pyriform sinus fistula (PSF) is a congenital anomaly which originates from the pharyngeal pouch. PSF is initially recognized as a cyst around the fetal neck, but accurate prenatal diagnosis of the disease is challenging. We aimed to report the key findings and tips in accurately distinguishing PSF from other differential diagnosis by which enables detection of the communication of the nuchal cyst and the pharynx. CASE REPORT: We report a case in which we were able to diagnose PSF as early as 18 weeks of gestation with ultrasonography. We used epiglottis as a landmark, and detected an unilobular cyst arising from the pharynx. CONCLUSION: Ultrasonography is a powerful tool in prenatal diagnosis of PSF especially at early stage of pregnancy. By detecting the epiglottis, it can locate the communication of the nuchal cyst and the pharynx, and thereby enables an accurate diagnosis of PSF.


Assuntos
Fístula , Seio Piriforme , Feminino , Fístula/congênito , Fístula/diagnóstico por imagem , Humanos , Faringe/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Seio Piriforme/anormalidades , Seio Piriforme/diagnóstico por imagem , Ultrassonografia
6.
Proc Natl Acad Sci U S A ; 119(18): e2115960119, 2022 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-35482924

RESUMO

SignificanceJuvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia for which no curative treatment is available. This paper describes the identification of agonists of prostaglandin E2 receptors as a potential therapeutic approach for the most common NPHP1-associated ciliopathies. We demonstrated that prostaglandin E1 rescues defective ciliogenesis and ciliary composition in NPHP1 patient urine-derived renal tubular cells and improves ciliary and kidney phenotypes in our NPH zebrafish and Nphp1-/- mouse models. In addition, Taprenepag alleviates the severe retinopathy observed in Nphp1-/- mice. Finally, transcriptomic analyses pointed out several pathways downstream the prostaglandin receptors as cell cycle progression, extracellular matrix, or actin cytoskeleton organization. Altogether, our findings provide an alternative for treatment of NPH.


Assuntos
Ciliopatias , Doenças Renais Policísticas , Animais , Cílios/metabolismo , Ciliopatias/tratamento farmacológico , Ciliopatias/genética , Ciliopatias/metabolismo , Feminino , Humanos , Doenças Renais Císticas/congênito , Masculino , Camundongos , Doenças Renais Policísticas/metabolismo , Prostaglandinas/metabolismo , Receptores de Prostaglandina E/metabolismo , Peixe-Zebra
7.
Artigo em Chinês | MEDLINE | ID: mdl-35483689

RESUMO

Objective:To investigate the clinical features, diagnosis, and treatment experience of congenital stenosis of an external auditory canal with external auditory canal cholesteatoma. Methods:The clinical data of 152 patients(153 ears) with congenital external auditory canal stenosis complicated with external auditory canal cholesteatoma treated in the Department of Otorhinolaryngology Head and Neck Surgery of Beijing Tongren Hospital affiliated to Capital Medical University from January 2009 to December 2019 were analyzed retrospectively, including the age of onset, clinical manifestations, signs, audiology, high-resolution computed tomography(HRCT) of the temporal bone, mode of operation and so on. According to the preoperative imaging findings, intraoperative findings,and pathological results, 152 patients with congenital external auditory canal stenosis with external auditory canal cholesteatoma were treated with canaloplasty and tympanoplasty while clearing the cholesteatoma. Results:All patients were followed up for 2-2.5 years, there was no recurrence of cholesteatoma, and the reconstructed external auditory canal was spacious. The hearing levels of 108 ears who underwent hearing reconstruction were significantly improved, and the average hearing threshold was reduced by 20-35 dB. Conclusion:The stenosis of the external auditory meatus is easy to be complicated with cholesteatoma of the external auditory canal,and the occurrence of cholesteatoma of the external auditory canal is directly related to the diameter of the external auditory canal meatus.But the time of occurrence of the cholesteatoma is not directly related to the diameter of the external auditory canal. Severe congenital stenosis of the external auditory canal with auricle deformity is easy to be missed and misdiagnosed due to retroauricular redness, swelling, and ulceration. For this kind of patient, cholesteatoma should be treated first, and then plastic surgery such as auricle reconstruction should be performed. Retroauricular incisions should be avoided to create conditions for auricle reconstruction in the future.


Assuntos
Colesteatoma , Meato Acústico Externo , Colesteatoma/complicações , Colesteatoma/congênito , Colesteatoma/cirurgia , Constrição Patológica/cirurgia , Meato Acústico Externo/patologia , Meato Acústico Externo/cirurgia , Humanos , Estudos Retrospectivos , Timpanoplastia
8.
Artigo em Inglês | MEDLINE | ID: mdl-35483878

RESUMO

The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in PIK3CA It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with MCAP, and a subset of individuals have cortical malformations requiring resective epilepsy surgery. Like other mosaic disorders, establishing a molecular diagnosis is largely achieved by screening lesional tissues (such as brain or skin), with a low diagnostic yield from peripheral tissues (such as blood). Therefore, in individuals with MCAP in whom lesional tissues are scarce or unavailable or those ineligible for epilepsy surgery, establishing a molecular diagnosis can be challenging. Here we report on the utility of cerebrospinal fluid (CSF)-derived cfDNA for the molecular diagnosis of an individual with MCAP syndrome harboring a mosaic PIK3CA variant (c.3139C > T, p.His1047Tyr). The proband presented with asymmetric megalencephaly without significant dysgyria. He did not have refractory epilepsy and was therefore not a candidate for epilepsy surgery. However, he developed diffuse large B-cell lymphoma (DLBCL) in late childhood, with four CSF samples obtained via lumbar puncture for cancer staging during which one sample was collected for cfDNA extraction and sequencing. PIK3CA variant allele fractions in CSF cell-free DNA (cfDNA), skin fibroblasts, and peripheral blood were 3.08%, 37.31%, and 2.04%, respectively. This report illustrates the utility of CSF-derived cfDNA in MCAP syndrome. Minimally invasive-based molecular diagnostic approaches utilizing cfDNA not only facilitate accurate genetic diagnosis but also have important therapeutic implications for individuals with refractory epilepsy as repurposed PI3K-AKT-MTOR pathway-inhibitors become more widely available.


Assuntos
Ácidos Nucleicos Livres , Epilepsia Resistente a Medicamentos , Megalencefalia , Anormalidades Múltiplas , Capilares/anormalidades , Ácidos Nucleicos Livres/genética , Criança , Classe I de Fosfatidilinositol 3-Quinases/genética , Humanos , Masculino , Megalencefalia/diagnóstico , Megalencefalia/genética , Mutação , Patologia Molecular , Fosfatidilinositol 3-Quinases/genética , Dermatopatias Vasculares , Síndrome , Telangiectasia/congênito , Malformações Vasculares
9.
Urologiia ; (2): 77-83, 2022 May.
Artigo em Russo | MEDLINE | ID: mdl-35485818

RESUMO

Urethral diverticula are sac-like dilatations of the urethra that communicate with its lumen. They may be congenital or acquired. In males, urethral diverticula are rare and classified as congenital (true) and acquired, which are associated with trauma, abscess, strictures, surgical procedures, in particular in patients with hypospadias. A clinical observation of urethral diverticulum with two stones in a man after complex treatment of prostate cancer with metastasis to the left cavernous body of the penis is presented in the article. At the first stage, the patient underwent endoscopic lithotripsy with a biopsy of the diverticulum wall and laser ablation of the stricture of urethrovesical anastomosis. At the second stage the excision of the diverticulum with urethroplasty was performed. The team of authors considers this clinical observation to be unusual. Previously, postoperative urethral diverticula with two stones in patients after complex treatment of prostate cancer with metastasis to the left cavernous body of the penis was not described in the scientific literature.


Assuntos
Divertículo , Neoplasias da Próstata , Doenças Uretrais , Constrição Patológica/complicações , Divertículo/complicações , Divertículo/congênito , Divertículo/cirurgia , Feminino , Humanos , Masculino , Pênis , Neoplasias da Próstata/complicações , Uretra/cirurgia , Doenças Uretrais/etiologia , Doenças Uretrais/cirurgia
12.
Eur J Med Res ; 27(1): 57, 2022 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-35462544

RESUMO

BACKGROUND: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive non-inflammatory skeletal disease with childhood onset and is characterized by a progressive chondropathy in multiple joints, and skeletal abnormalities. To date, the etiopathological relationship between biological modification occurring in PPRD and genetic mutation remains an open issue, partially due to the limited availability of biological samples obtained from PPRD patients for experimental studies. CASE PRESENTATION: We describe the clinical features of a PPRD patient and experimental results obtained from the biological characterization of PPRD mesenchymal stromal cells (MSCs) and osteoblasts (OBs) compared to normal cell populations. Phenotypic profile modifications were found in PPRD compared to normal subjects, essentially ascribed to decreased expression of CD146, osteocalcin (OC) and bone sialoprotein in PPRD MSCs and enhanced CD146, OC and collagen type I expression in PPRD OBs. Gene expression of Dickkopf-1, a master inhibitor of WNT signaling, was remarkably increased in PPRD MSCs compared to normal expression range, whereas PPRD OBs essentially exhibited higher OC gene expression levels. PPRD MSCs failed to efficiently differentiate into mature OBs, so showing a greatly impaired osteogenic potential. CONCLUSIONS: Since all regenerative processes require stem cell reservoirs, compromised functionality of MSCs may lead to an imbalance in bone homeostasis, suggesting a potential role of MSCs in the pathological mechanisms of PPRD caused by WNT1-inducible signaling pathway protein-3 (WISP3) mutations. In consideration of the lack of compounds with proven efficacy in such a rare disease, these data might contribute to better identify new specific and effective therapeutic approaches.


Assuntos
Artropatias , Células-Tronco Mesenquimais , Antígeno CD146 , Diferenciação Celular/genética , Criança , Humanos , Artropatias/congênito , Artropatias/fisiopatologia , Células-Tronco Mesenquimais/fisiologia , Osteogênese/genética
13.
Medicine (Baltimore) ; 101(10): e29035, 2022 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-35451412

RESUMO

BACKGROUND: This study is the protocol to evaluate the clinical evidence for external treatments using herbal medicine (ETHM) with tuina as a congenital muscular treatment (CMT) in pediatrics. METHODS: Eleven databases will be searched until June 2022, without any language restrictions: four English databases (MEDLINE, Pubmed, EMBASE, and The Cochrane Central Register of Database of Controlled Trials), three Chinese databases (China National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan Fang Database), and four Korean electronic databases (Oriental Medicine Advanced Searching Integrated System, Korean Studies Information Service System, National Digital Science Links, and Research Information Sharing Service). This review will include randomized clinical trials (RCTs) of ETHM with tuina as an intervention versus the same tuina. All published RCTs for any ETHM for CMT will be included. Non-RCTs, RCT protocol, animal studies, case reports, reviews, and surveys will be excluded. The methodological quality assessment will be performed using the Cochrane risk of bias (ROBs). Review Manager version 5.4. will be used for the data synthesis and quantitative analysis. RESULTS AND DISCUSSIONS: The systematic review and meta-analysis will provide evidence for ETHM as a treatment of CMT. The evidence can help clinicians and patients recognize more effective therapeutic and safe inventions. INPLASY REGISTRATION NUMBER: INPLASY202210017.


Assuntos
Medicina Tradicional Chinesa , Plantas Medicinais , Criança , Medicina Herbária , Humanos , Medicina Tradicional Chinesa/métodos , Metanálise como Assunto , Projetos de Pesquisa , Literatura de Revisão como Assunto , Revisões Sistemáticas como Assunto , Torcicolo/congênito
14.
J Med Invest ; 69(1.2): 141-144, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35466136

RESUMO

The patient was a 15 months-old boy who had been diagnosed CHARGE syndrome, which is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Mechanical ventilation management was initiated 2 hours after birth for dysphagia and respiratory failure, and tracheotomy was performed 3 months after birth for dysphagia and failed extubation. He was repeatedly hospitalized due to pneuomoniae. Approximately 1 year after birth, the boy had two consecutive episodes of sudden ventilatory insufficiency while replacing the tracheotomy cannula. A bronchoscopic examination under general anesthesia revealed a tracheoesophageal fistula directly below the tracheostomy. The patient was diagnosed with Gross E esophageal atresia, and we speculated that the cannula migrated to the esophagus via the fistula during tracheostomy cannula replacement. Gross E esophageal atresia is a rare disease. Its diagnosis is often delayed, and it is discovered by recurrent pneumonia in many cases. A tracheoesophageal fistula may also be found in children with deformities of the respiratory system. Furthermore, tracheoesophageal fistulae are often found in the neck. Therefore, when sudden ventilatory insufficiency occurs in a child with a tracheostomy after replacing the tracheostomy cannula, caution must be exercised since the cannula may have migrated to the esophagus via a fistula. J. Med. Invest. 69 : 141-144, February, 2022.


Assuntos
Anormalidades Múltiplas , Transtornos de Deglutição , Atresia Esofágica , Fístula Traqueoesofágica , Criança , Atresia Esofágica/diagnóstico , Humanos , Lactente , Masculino , Fístula Traqueoesofágica/congênito , Fístula Traqueoesofágica/diagnóstico
15.
J Ayub Med Coll Abbottabad ; 34(1): 197-199, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35466653

RESUMO

BACKGROUND: Amyloidosis is characterised by the deposition of fibrillar insoluble proteinaceous material called amyloid in the extracellular spaces. It may present as localized form which is rare and systemic form. Systemic amyloidosis involves many organs like kidney, heart and liver. Manifestations of both types may vary based on the age of onset, degree and extension of the deposition. Understandably, the diagnosis is challenging but the early identification of the condition and the type of amyloidosis can increase the efficiency of treatment. Positive Congo red staining is the gold standard for demonstration of amyloid in tissue sections. Here we are presenting a case of a 77-year-old female patient who presented with the complaint of difficulty in swallowing for 2 years due to bilateral symmetrical enlargement of the tongue which was subsequently diagnosed as systemic amyloidosis.


Assuntos
Amiloidose , Amiloidose de Cadeia Leve de Imunoglobulina , Macroglossia , Idoso , Amiloidose/complicações , Amiloidose/diagnóstico , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Macroglossia/congênito , Macroglossia/diagnóstico , Macroglossia/etiologia , Língua
16.
HNO ; 70(5): 405-414, 2022 May.
Artigo em Alemão | MEDLINE | ID: mdl-35420313

RESUMO

Cogan I syndrome is a rare disease consisting of vestibulocochlear symptoms and non-syphilitic interstitial keratitis. Although this disease was first described in 1945, its pathogenesis is still unknown. An autoimmune vasculitis etiology is currently discussed. Atypical manifestations are characterized by delayed ocular symptoms or variability of inflammatory eye symptoms. Physical examination often reveals bilateral sensorineural hearing loss. Intratympanic corticosteroid application can be successful.


Assuntos
Síndrome de Cogan , Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Ceratite , Apraxias/congênito , Síndrome de Cogan/complicações , Síndrome de Cogan/diagnóstico , Diagnóstico Diferencial , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Súbita/diagnóstico , Perda Auditiva Súbita/etiologia , Humanos , Ceratite/diagnóstico , Síndrome
17.
Clin Imaging ; 86: 94-97, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35397299

RESUMO

We present a case of spondyloepiphyseal dysplasia congenita (SEDC), a rare autosomal dominant genetic disorder that results in short stature and skeletal anomalies. Children with SEDC have disproportionate short-trunked short stature, platyspondyly, coxa vara, and epiphyseal involvement. Those with coxa vara can develop osteoarthritis of the hip early and a valgus hip osteotomy is recommended to preserve hip function and delay progression to osteoarthritis. Surgery is difficult due to the three-dimensional deformity, unossified femoral head, and small patient size. In this case, a patient-specific surgical plan and implant sizing was developed using a composite 3D reconstruction from computed tomography (CT) and magnetic resonance imaging (MRI). The complementary use of both modalities allowed for a complete visualization of the patient's dysplastic femoral head & neck anatomy.


Assuntos
Coxa Vara , Osteocondrodisplasias , Criança , Coxa Vara/cirurgia , Humanos , Imageamento Tridimensional , Osteocondrodisplasias/congênito , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Osteocondrodisplasias/cirurgia , Osteotomia/métodos
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(4): 370-373, 2022 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-35446968

RESUMO

OBJECTIVE: To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome. METHODS: Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting. RESULTS: A novel homozygous variant, c.1222delG of the DYM gene was detected in the two affected siblings, for which both parents were heterozygous carriers. The variant has caused replacement of Asp by Met at amino acid 408 and generate a premature stop codon p.Asp408Metfs*10. Western blotting confirmed that the variant can result in degradation of the mutant DYM protein, suggesting that it is a loss of function variant. CONCLUSION: The homozygous c.1222delG frameshift variant of the DYM probably underlay the Dyggve-Melchior-Clausen syndrome in the two affected siblings. Above findings has enabled clinical diagnosis and genetic counseling for the family.


Assuntos
Nanismo , Osteocondrodisplasias , China , Nanismo/genética , Humanos , Deficiência Intelectual , Osteocondrodisplasias/congênito , Osteocondrodisplasias/genética , Linhagem
19.
PLoS One ; 17(4): e0267751, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35486589

RESUMO

BACKGROUND: Congenital central hypoventilation syndrome (CCHS), which is caused by PHOX2B with phenotypic variations, has a point of controversy: CCHS is putatively involved in autopsy cases of sudden unexpected infant death (SUID) including sudden infant death syndrome. OBJECTIVE: The relation of CCHS to SUID cases was investigated by extensive genotyping of PHOX2B. METHODS: We analyzed 93 DNA samples of less than one-year-old SUID cases that were autopsied in our department. Unrelated adult volunteers (n = 942) were used as the control. RESULTS: No polyalanine tract expansion was detected in the SUID cases. The allelic frequencies of repeat contractions and SNP (rs28647582) in intron 2 were not significantly different from that in those control group. Further extensive sequencing revealed a non-polyalanine repeat mutation (NPARM) of c.905A>C in a sudden death case of a one-month-old male infant. This missense mutation (p.Asn302Thr), registered as rs779068107, was annotated to 'Affected status is unknown', but it might be associated with the sudden death. CONCLUSION: NPARM was more plausibly related to sudden unexpected death than expansions because of severe clinical complications. This finding indicates possible CCHS involvement in forensic autopsy cases without ante-mortem diagnosis.


Assuntos
Morte Súbita do Lactente , Adulto , Autopsia , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/congênito , Lactente , Masculino , Mutação , Apneia do Sono Tipo Central , Morte Súbita do Lactente/genética , Fatores de Transcrição/genética
20.
J Comp Pathol ; 193: 20-24, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35487619

RESUMO

We investigated the pathological characteristics of renal dysplasia with hydronephrosis and congenital ureteral stricture in two calves. Macroscopically, the affected kidneys were enlarged and the renal calyces were dilated and associated with ureteral strictures. Histopathologically, multifocal regions of mesenchyme were observed in the renal medulla. This mesenchyme was weakly eosinophilic with haematoxylin and eosin, blue with Alcian blue and pale blue with Masson's trichrome, and was immunopositive for vimentin and smooth muscle actin, consistent with persistent mesenchyme. There was asynchronous differentiation of the renal cortex characterized by immature glomeruli, immature tubules and arteriolar proliferation. Similar persistent mesenchyme was observed in the ureteral walls with ureteral stricture, and the ureteral musculature or smooth muscle bundles had a disorganized arrangement. Congenital ureteral stricture appeared to have caused ureteral obstruction and hydronephrosis. The lesions may represent a new phenotype of renal dysplasia with concomitant congenital ureteral stricture in Holstein-Friesian calves.


Assuntos
Doenças dos Bovinos , Hidronefrose , Obstrução Ureteral , Animais , Bovinos , Doenças dos Bovinos/patologia , Constrição Patológica/patologia , Constrição Patológica/veterinária , Feminino , Hidronefrose/complicações , Hidronefrose/congênito , Hidronefrose/veterinária , Rim/patologia , Masculino , Músculo Liso/patologia , Obstrução Ureteral/veterinária
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...