scholarly journals A 22q11.2-microdeletiós szindróma klinikai jellemzői

2022 ◽  
Vol 163 (1) ◽  
pp. 21-30
Keyword(s):  
Motor Development ◽  
Digeorge Syndrome ◽  
Heart Surgery ◽  
Clinical Signs ◽  
National Database ◽  
Comparative Genome Hybridization ◽  
Human Phenotype ◽  
Development Delay ◽  
Cytogenetic Testing ◽  
Second Tier

Összefoglaló. Bevezetés: A sokszínű tünetspektrummal jellemezhető DiGeorge-szindróma leggyakoribb oka a 22q11.2-microdeletio; incidenciája 1/4000–6000. Célkitűzés: A DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval társult tüneteinek/panaszainak részletes feltérképezése, a betegség incidenciájának becslése és egy magyarországi 22q11.2-microdeletiós szindróma regiszter létrehozása. Módszer: 2005 és 2019 között a Semmelweis Egyetem II. Gyermekgyógyászati Klinikájára DiGeorge-szindróma gyanújával beutalt és a Veleszületett Rendellenességek Országos Nyilvántartása által regisztrált DiGeorge-szindrómás betegek adatait dolgoztuk fel. A fenotípusjegyeket a Humán Fenotípus Ontológia kódrendszer alapján határoztuk meg. Eredmények: A vizsgálatba 114, igazolt DiGeorge-szindrómás és 113, FISH-vizsgálattal microdeletiót nem hordozó, de klinikailag a DiGeorge-szindróma tüneteit mutató beteget vontunk be. A diagnózis felállításakor a betegek átlagéletkora 5,88 (± 9,66 SD) év volt, eddig a betegek 54,9%-a legalább egy szívműtéten átesett. A betegek leggyakoribb tünetei a kamrai sövényhiány, a mélyen ülő fülek, a gótikus szájpad, a motoros fejlődési elmaradás és a visszatérő fertőzések voltak. Megbeszélés: A DiGeorge-szindróma becsült incidenciája hazánkban 1/12 500, közöttük magas a többszörösen veszélyeztetett újszülöttek és a műtéti korrekcióra szorulók aránya. A diagnózis hazánkban 2–3 évvel korábban történik a nemzetközi átlaghoz viszonyítva. Következtetés: A létrehozott regiszterünk alapján Magyarországon a kórkép aluldiagnosztizált. Minden conotruncalis szívfejlődési rendellenesség vagy jelentős kamrai sövényhiány esetén citogenetikai vizsgálat javasolt a DiGeorge-szindróma felmerülő gyanúja miatt. Negatív lelet esetén az atípusos töréspontú microdeletiók azonosítására komparatív genomiális hibridizáció vagy multiplex ligatiofüggő próbaamplifikációs vizsgálat javasolt. A betegek számára multidiszciplináris ellátás szükséges, III-as progresszivitási szintű újszülött intenzív részlegen, gyermekkardiológus és klinikai genetikus részvételével. Orv Hetil. 2022; 163(1): 21–30. Summary. Introduction: The 22q11.2 microdeletion syndrome is the most common cause of DiGeorge syndrome, showing a wide phenotypic spectrum and has an estimated incidence of 1/4000–6000 livebirths. Objective: Detailed characterization of the clinical signs/symptoms associated with 22q11.2 deletion, estimation of the national incidence via establishing a Hungarian register. Method: Retrospective data between 2005 and 2019 from the 2nd Department of Paediatrics, Semmelweis University and from national database of congenital anomalies were obtained. Phenotypic abnormalities were described using the Human Phenotype Ontology nomenclature. Results: A cohort of 114 DiGeorge patients and 113 patients negative for FISH testing were included. The mean age of patients at diagnosis was 5.88 (± 9.66 SD) years and 54.9% of patients had at least one heart surgery until diagnosis. The main identified symptoms were ventricular septal defect, low-set ears, recurrent infections, high narrow palate and motor development delay. Discussion: The estimated incidence of DiGeorge syndrome in Hungary is 1/12 500 births, the frequency of infants at high risk and in need for surgery is high. Diagnosis is established 2–3 years earlier as compared to the international average. Conclusion: Based on the established Hungarian register, the incidence is lower compared to international data. In the case of conotruncal heart anomaly and ventricular septal defects, cytogenetic testing is recommended for the increased probability of DiGeorge syndrome. For second-tier testing, comparative genome hybridization or multiplex ligation-dependent probe amplification are recommended to identify atypical microdeletions. Newborns with DiGeorge syndrome require special care in perinatal intensive centers including pediatric cardiology and genetic counseling. Orv Hetil. 2022; 163(1): 21–30.

scholarly journals Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model

2021 ◽  
Vol 12 ◽  
Author(s):  
Milvia Alata ◽  
Arturo González-Vega ◽  
Valeria Piazza ◽  
Anke Kleinert-Altamirano ◽  
Carmen Cortes ◽  
...  
Keyword(s):  
White Matter ◽  
Basal Ganglia ◽  
Cognitive Deficits ◽  
Motor Development ◽  
Clinical Signs ◽  
Ventricular System ◽  
Ataxic Gait ◽  
White Matter Changes ◽  
Abnormal Movements ◽  
Development Delay

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and cognitive deficits. Diagnosis is made by integrating clinical data and radiological signs. Differences in MRIs have been reported in patients that carry the same mutation; however, a quantitative study has not been performed so far. Our study aimed to provide a longitudinal analysis of the changes in the cerebellum (Cb), corpus callosum (CC), ventricular system, and striatum in a patient suffering from H-ABC and in the taiep rat. We correlated the MRI signs of the patient with the results of immunofluorescence, gait analysis, segmentation of cerebellum, CC, and ventricular system, performed in the taiep rat. We found that cerebellar and callosal changes, suggesting a potential hypomyelination, worsened with age, in concomitance with the emergence of ataxic gait. We also observed a progressive lateral ventriculomegaly in both patient and taiep, possibly secondary to the atrophy of the white matter. These white matter changes are progressive and can be involved in the clinical deterioration. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) gives rise to a spectrum of clinical signs whose pathophysiology still needs to be understood.

scholarly journals Maternal and Neonatal Outcome after the Use of G-CSF for Cancer Treatment during Pregnancy

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1214
Author(s):  
Claudia Berends ◽  
Charlotte Maggen ◽  
Christianne A. R. Lok ◽  
Mathilde van Gerwen ◽  
Ingrid A. Boere ◽  
...  
Keyword(s):  
Motor Development ◽  
Neonatal Intensive Care ◽  
Neonatal Outcome ◽  
Intrauterine Death ◽  
Delayed Effects ◽  
Development Delay ◽  
Dose Dense ◽  
Neonatal Neutropenia ◽  
Stimulating Factor

Data on the use of Granulocyte colony-stimulating factor (G-CSF) in pregnant cancer patients are scarce. The International Network of Cancer, Infertility and Pregnancy (INCIP) reviewed data of pregnant patients treated with chemotherapy and G-CSF, and their offspring. Among 2083 registered patients, 42 pregnant patients received G-CSF for the following indications: recent chemotherapy induced febrile neutropenia (5; 12%), dose dense chemotherapy (28, 67%), poly chemotherapy (7, 17%), or prevention of neutropenia at delivery (2; 5%). Among 24 women receiving dose dense chemotherapy, three (13%) patients recovered from asymptomatic neutropenia within 5 days. One patient developed pancytopenia following polychemotherapy after which the pregnancy was complicated by chorioamnionitis and intrauterine death. Nineteen singleton livebirths (49%) were born preterm. Sixteen neonates (41%) were admitted to the Neonatal Intensive care Unit (NICU). No neonatal neutropenia occurred. Two neonates had congenital malformations. Out of 21 children in follow-up, there were four children with a motor development delay and two premature infants had a delay in cognitive development. In conclusion, the rate of maternal and neonatal complications are similar to those described in (pregnant) women treated with chemotherapy. Due to small numbers and limited follow-up, rare or delayed effects among offspring exposed to G-CSF in utero cannot be ruled out yet.

scholarly journals Duplex Methylation-Specific Semi-Quantitative Real-Time PCR for Cost-Effective & Time-Efficient Diagnostic Screening of Chromosome 15 and 14 Imprinted Regions

2015 ◽  
Vol 15 (3) ◽  
pp. 5-12
Author(s):  
E Ruszova ◽  
M Chmelarova ◽  
M Senkerikova ◽  
S Stefackova
Keyword(s):  
Motor Development ◽  
Cpg Islands ◽  
Cost Effective ◽  
Copy Number Variations ◽  
Chromosome 15 ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Effective Time ◽  
Development Delay ◽  
Polymerase Chain

AbstractPurpose: Our goal was to develop two-tier strategy based onin house-designed methylation specific-duplex polymerase chain reactions (MS-PCRs) that could serve as a relatively simple, cost effective, time efficient approach for molecular screening of imprinted regions on chromosomes 15 and 14.Patients and methods: Patients were referred to examination during infancy due to hypotonia and motor development delay. Duplex MS-PCRs were performed that enabled detection of methylated/unmethylated DNA inNDNandMEG3CpG islands via plurality of detection channels on PCR instrument Rotor Gene 6000.Results and discussion: Both, copy number variations as well as methylation changes, were revealed by ourin house-designed methodology by focusingNDNgene. No imprinting aberrations were yet discovered inMEG3gene. Clinical features of the patients were compared. In agree with literature no typical facial features were observed in PWS patient with imprinting defect and AS UPD patient seems to have a relatively better development and language ability in comparison to deletional form of the disease.Conclusion: In conclusion we were able to establish new, throughput and robust diagnostic approach to PWS/AS.

scholarly journals Microsurgical treatment of a large posterior fossa arachnoid cyst

2020 ◽  
Vol 2 (3(September-December)) ◽  
pp. e592020
Author(s):  
Leopoldo Mandic Ferreira Furtado ◽  
José Aloysio da Costa Val Filho ◽  
François Dantas ◽  
Camila Moura De Sousa
Keyword(s):  
Posterior Fossa ◽  
Arachnoid Cyst ◽  
Motor Development ◽  
Fourth Ventricle ◽  
Open Surgery ◽  
Surgical Strategies ◽  
Development Delay ◽  
Microsurgical Resection ◽  
Cystoperitoneal Shunting ◽  
Endoscopic Fenestration

Introduction: Arachnoid cysts are fluid-filled malformations of the arachnoid tissue. A prevalence in children of 2,6% has been reported[2,3]. Surgical strategies of treatment include open surgery with cyst wall excision , endoscopic fenestration or cystoperitoneal shunting[1,4]. Methods: In this video case, we described the case of a 1 year and 7 months old child who presented with motor development delay, unable to walk, who underwent microsurgical resection of a large posterior fossa arachnoid cyst and communication with the fourth ventricle. Conclusion: Microsurgery approach provides a safe anatomic control over the cyst and the recognition of floor of the fourth ventricle.  

Milk and Lactation: Some Social and Developmental Correlates Among 1,000 Infants

PEDIATRICS ◽  
1982 ◽  
Vol 69 (2) ◽  
pp. 169-175
Author(s):  
H. Boutourline Young ◽  
Ann E. Buckley ◽  
Bechir Hamza ◽  
Carmine Mandarano
Keyword(s):  
Nutrition Education ◽  
Breast Feeding ◽  
Motor Development ◽  
Early Childhood Development ◽  
Clinical Signs ◽  
Subsequent Pregnancy ◽  
Childhood Development ◽  
Physical Growth ◽  
Social Categories ◽  
Number Of Children

Breast-feeding and artificial feeding practices in a developing country were examined and related to some social and developmental factors. This was done during the course of a transverse-type growth study of 1,000 infants from birth to 26 months of age. Three types of feeding were identified: breast, mixed, and artificial. The families were divided into three social categories. To give time for the effects of the type of feeding, groups of children at 6, 8, 10, 12, 14, and 16 months of age were studied. In view of the lack of data on feeding effects upon large samples, the study was performed to assess the relative effects of feeding on early childhood development (Bayley Motor and Mental Scales), body length and weight, disease prevalence, clinical signs of allergies, and number of children in the family. Results showed that within the underprivileged group, there was evidence that breast-feeding promoted physical growth, sensory motor development, and resistance to infection. In mothers of both male and female infants who breast-fed, there was a protective effect against subsequent pregnancy up to ten months. Therefore, among the underprivileged in developing countries, every effort should be made to prolong breast-feeding and to assist mothers with health and nutrition education.

Vitamin D Deficiency: A Treatable but Often Forgotten Cause of Motor Delay in Infants

2019 ◽  
Vol 18 (01) ◽  
pp. 013-016
Author(s):  
Shruti Kakkar ◽  
Suhalika Singla Sahni ◽  
Ruchika Kumar ◽  
Jatinder Singh Goraya
Keyword(s):  
Vitamin D ◽  
Young Children ◽  
Vitamin D Deficiency ◽  
Motor Development ◽  
Clinical Signs ◽  
Retrospective Chart Review ◽  
Motor Delay ◽  
Presenting Symptoms ◽  
Lost To Follow Up ◽  
Infants And Young Children

AbstractVitamin D deficiency is an under-recognized cause of motor delays in infants and young children. Retrospective chart review identified 17 infants, 11 boys and 6 girls, aged between 7 and 27 months with motor delays attributable to vitamin D deficiency. Diagnosis of vitamin D deficiency was made on the basis of clinical, radiological, and biochemical findings. Presenting symptoms were delay in motor milestones in 14 and hypocalcemic seizures in 3. On physical examination, clinical signs of rickets were present in all. Neurological examination displayed hypotonia with retained tendon reflexes. Thirteen and ten infants, respectively, underwent radiographical and biochemical investigations, and all had abnormalities consistent with rickets. All infants were treated with 6,00,000 IU of vitamin D. Four infants were lost to follow-up. Rapid recovery of motor development was observed in remaining 13 infants. Vitamin D deficiency should be considered in the differential diagnosis of motor delays in infants and young children.

scholarly journals Virulence Potential of Ehrlichia chaffeensis Strains of Distinct Genome Sequences

2007 ◽  
Vol 75 (7) ◽  
pp. 3604-3613 ◽  
Author(s):  
Koshiro Miura ◽  
Yasuko Rikihisa
Keyword(s):  
Cell Envelope ◽  
Severe Combined Immunodeficiency ◽  
Clinical Signs ◽  
Granulomatous Inflammation ◽  
Open Reading Frames ◽  
Comparative Genome Hybridization ◽  
Ehrlichia Chaffeensis ◽  
Genome Sequences ◽  
Genes Encoding ◽  
Ankyrin Repeat Proteins

ABSTRACT Human monocytic ehrlichiosis, one of the most frequent life-threatening tick-borne zoonoses, is caused by Ehrlichia chaffeensis that lacks endotoxin and peptidoglycan. While sequence polymorphisms in several genes in E. chaffeensis strains have been reported, global genomic divergence and biological differences among strains are unknown. The objectives of the present study were to compare the genome sequences of strains of E. chaffeensis and to examine the virulence potentials of the strains with defined genome sequences. Genomic DNA was extracted from purified E. chaffeensis strains Wakulla and Liberty, and comparative genome hybridization was performed using a densely tiled microarray of 147,027 chromosome positions of the E. chaffeensis strain Arkansas genome. The results revealed that 4,663 and 5,325 positions in the chromosomes of strains Wakulla and Liberty, respectively, were different from those in the chromosome of strain Arkansas, including three common major polymorphic chromosomal regions. Of various functional categories, the differences were most concentrated in genes predicted to encode cell envelope proteins. Of all the open reading frames (ORFs), 21 omp-1 (p28 gene) paralogs, nine genes encoding hypothetical proteins, two genes encoding ankyrin repeat proteins, and hemE contained the most differences. Several highly polymorphic ORFs were confirmed by sequencing. When the E. chaffeensis strains were inoculated into severe combined immunodeficiency mice, the order of the severity of clinical signs and the bacterial burden detected in mice was Wakulla > Liberty > Arkansas. Severe diffuse inflammation and granulomatous inflammation were evident in the livers of mice infected with strains Wakulla and Arkansas, respectively, but not in the livers of mice infected with strain Liberty. These results revealed distinct virulence phenotypes of E. chaffeensis strains with defined genome sequences.

scholarly journals Loss of Functional Osteoprotegerin: More Than a Skeletal Problem

2016 ◽  
Vol 102 (1) ◽  
pp. 210-219 ◽  
Author(s):  
Corinna Grasemann ◽  
Nicole Unger ◽  
Matthias Hövel ◽  
Diana Arweiler-Harbeck ◽  
Ralf Herrmann ◽  
...  
Keyword(s):  
Short Stature ◽  
Family Members ◽  
Clinical Signs ◽  
Multiple Organ ◽  
Heterozygous Mutation ◽  
Human Phenotype ◽  
Recessive Mutations ◽  
Organ Systems ◽  
Juvenile Paget’S Disease ◽  
Turnover Markers

Abstract Introduction: Juvenile Paget’s disease (JPD), an ultra-rare, debilitating bone disease due to loss of functional osteoprotegerin (OPG), is caused by recessive mutations in TNFRFSF11B. A genotype–phenotype correlation spanning from mild to very severe forms is described. Aim: This study aimed to describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carriers for clinical signs of JPD. Patients: We investigated 3 children with JPD from families of Turkish, German, and Pakistani descent and 19 family members (14 heterozygous). Results: A new disease-causing 4 bp-duplication in exon 1 was detected in the German patient, and a microdeletion including TNFRFSF11B in the Pakistani patient. Skeletal abnormalities in all affected children included bowing deformities and fractures, contractures, short stature and skull involvement. Complex malformation of the inner ear and vestibular structures (2 patients) resulted in early deafness. Patients were found to be growth hormone deficient (2), displayed nephrocalcinosis (1), and gross motor (3) and mental (1) retardation. Heterozygous family members displayed low OPG levels (12), elevated bone turnover markers (7), and osteopenia (6). Short stature (1), visual impairment (2), and hearing impairment (1) were also present. Conclusion: Diminished OPG levels cause complex changes affecting multiple organ systems, including pituitary function, in children with JPD and may cause osteopenia in heterozygous family members. Diagnostic and therapeutic measures should aim to address the complex phenotype.

scholarly journals Raising the bar to ultradisciplinary collaborations in management of chronic thromboembolic pulmonary hypertension

2021 ◽  
Vol 29 (3) ◽  
pp. 417-431
Author(s):  
Tankut Akay ◽  
Cihangir Kaymaz ◽  
Ahmet Rüçhan Akar ◽  
Gökçen Orhan ◽  
Mehmed Yanartaş ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Heart Surgery ◽  
Multimodality Imaging ◽  
Open Heart Surgery ◽  
Clinical Signs ◽  
Chronic Thromboembolic Pulmonary Hypertension ◽  
Case Fatality ◽  
Heart Catheterization ◽  
Pulmonary Endarterectomy ◽  
Thromboembolic Pulmonary Hypertension

Chronic thromboembolic pulmonary hypertension is an underdiagnosed and potentially fatal subgroup of pulmonary hypertension, if left untreated. Clinical signs include exertional dyspnea and non-specific symptoms. Diagnosis requires multimodality imaging and heart catheterization. Pulmonary endarterectomy, an open heart surgery, is the gold standard treatment of choice in selected patients in specialized centers. Targeted medical therapy and balloon pulmonary angioplasty can be effective in high-risk patients with significant comorbidities, distal pulmonary vascular obstructions, or recurrent/persistent pulmonary hypertension after pulmonary endarterectomy. Currently, there is a limited number of data regarding novel coronavirus-2019 infection in patients with chronic thromboembolic pulmonary hypertension and the changing spectrum of the disease during the pandemic. Challenging times during this outbreak due to healthcare crisis and relatively higher case-fatality rates require convergence; that is an ultradisciplinary collaboration, which crosses disciplinary and sectorial boundaries to develop integrated knowledge and new paradigms. Management strategies for the "new normal" such as virtual care, preparedness for further threats, redesigned standards and working conditions, reevaluation of specific recommendations, and online collaborations for optimal decisions for chronic thromboembolic pulmonary hypertension patients may change the poor outcomes.

scholarly journals Treatment of defects of soft tisue and sternum, as postoperative complications of a-c by pass: Case report

2003 ◽  
Vol 50 (4) ◽  
pp. 147-150
Author(s):  
Milan Stojicic ◽  
Sinisa Birovljev ◽  
Milan Jovanovic ◽  
Miodrag Colic
Keyword(s):  
Multidisciplinary Approach ◽  
Heart Surgery ◽  
Soft Tissues ◽  
Clinical Signs ◽  
Deep Infection ◽  
High Rate ◽  
Mortality Factors ◽  
Post Operation ◽  
Optimal Approach ◽  
Previous Irradiation

Medial sternotomy is optimal approach for great number of heart surgery. Deep infection of sternum and mediastinis are very rear, but very dangerous complications followed by high rate of morbidity and mortality. Factors which can be responsible for these complications are numerous: post operation bleedings, surgery reinterventions, extended mechanical ventilation, liver chronical diseases, older age, diabetes, previous irradiation therapy, respiratory obstructions and use of steroids. Clinical signs for these complications are: red skin around the surgical wound, leaking, dehiscence, increased body temperature and instability of sternum. Early diagnosis, adequate antimicrobial therapy, and aggressive surgical and multidisciplinary approach in initial phase, are base for successful treatment. Surgical treatment most often assumes use of flaps. Our main objective in this work was to present treatment of defect of sternum and soft tissues, after triple aorto-coronary by pass. After the surgery patients got slack of sternum's ficsation and reficsation. With satisfactory respiratory function, corrections of defect was achived by omentum and bipedikular myocutan flaps. (m. pectoralis major flap). There was no complications.

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