scholarly journals Pregnancy and delivery in patients with hepatolenticular degeneration

2003 ◽  
Vol 52 (4) ◽  
pp. 68-71
Author(s):  
V. G. Vakharlovsky ◽  
F. K. Lagkueva ◽  
S. O. Kusova ◽  
T. I. Tzidaeva
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Teratogenic Effect ◽  
Hepatolenticular Degeneration ◽  
Disease Exacerbation ◽  
Successful Pregnancy ◽  
First Case ◽  
Pregnancy And Delivery

Data of pregnancy course and delivery in 3 patients with hepatolenticular degeneration (GLD) a rare disease of autosomal recessive inheritance pattern are presented. In one case GLD was diagnosed prior pregnancy and treatment with cuprenil was continued during pregnancy. No progressive GLD clinical symptoms were observed. However pregnancy and delivery appeared to provoke GLD typical manifestations in other two patients. They have not got specific treatment with cuprenil during pregnancy as disease was diagnosed only after delivery. Deliveries in patients with GLD were successful and the newborns were healthy. No evidence of cuprenil teratogenic effect on fetus was revealed in the first case. This GLD is not contraindication for successful pregnancy but it is necessary to use cuprenil for prevention of disease exacerbation.

scholarly journals Primary hypertrophic osteoarthropathy

2020 ◽  
Vol 58 (5) ◽  
pp. 544-549
Author(s):  
E. L. Trisvetova
Keyword(s):  
Autosomal Recessive ◽  
Specific Treatment ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
Bone Lesions ◽  
Malignant Neoplasms ◽  
Childhood And Adolescence ◽  
Hypertrophic Osteoarthropathy ◽  
Primary Hypertrophic Osteoarthropathy ◽  
X Ray

The article presents information about a rare hereditary disease – primary hypertrophic osteoarthropathy with autosomal dominant and autosomal recessive inheritance. Genetic heterogeneity is responsible for the clinical polymorphism of symptoms that appear in childhood and adolescence. Differential diagnosis should be carried out with secondary hypertrophic osteoarthropathy, which occurs in 90% of cases and is associated with malignant neoplasms, rheumatic diseases and other diseases. X-ray signs are of great importance to clarify the localization, extent and nature of bone lesions. There is no specific treatment for the disease.

scholarly journals Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

2021 ◽  
Vol 12 ◽  
Author(s):  
Ana Victoria Marco Hernández ◽  
Miguel Tomás Vila ◽  
Alfonso Caro Llopis ◽  
Sandra Monfort ◽  
Francisco Martinez
Keyword(s):  
Developmental Disorders ◽  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Autosomal Recessive Inheritance ◽  
Febrile Seizures ◽  
Dravet Syndrome ◽  
Compound Heterozygous ◽  
Recessive Inheritance ◽  
Clinical Criteria ◽  
Febrile Seizures Plus

Dominant pathogenic variations in the SCN1A gene are associated with several neuro developmental disorders with or without epilepsy, including Dravet syndrome (DS). Conversely, there are few published cases with homozygous or compound heterozygous variations in the SCN1A gene. Here, we describe two siblings from a consanguineous pedigree with epilepsy phenotype compatible with genetic epilepsy with febrile seizures plus (GEFS+) associated with the homozygous likely pathogenic variant (NM_001165963.1): c.4513A > C (p.Lys1505Gln). Clinical and genetic data were compared to those of other 10 previously published patients with epilepsy and variants in compound heterozygosity or homozygosity in the SCN1A gene. Most patients (11/12) had missense variants. Patients in whom the variants were located at the cytoplasmic or the extracellular domains frequently presented a less severe phenotype than those in whom they are located at the pore-forming domains. Five of the patients (41.7%) meet clinical criteria for Dravet syndrome (DS), one of them associated acute encephalopathy. Other five patients (41.7%) had a phenotype of epilepsy with febrile seizures plus familial origin, while the two remaining (17%) presented focal epileptic seizures. SCN1A-related epilepsies present in most cases an autosomal dominant inheritance; however, there is growing evidence that some genetic variants only manifest clinical symptoms when they are present in both alleles, following an autosomal recessive inheritance.

scholarly journals Hypoplasia of ribs associated with cleft palate, cleft lip, and unilateral renal agenesis in a neonate dog of undefined breed

2019 ◽  
Vol 40 (1) ◽  
pp. 497
Author(s):  
Keylla Helena Nobre Pacifico Pereira ◽  
Caio Henrique Paganini Burini ◽  
Elton Luís Ritir Oliveira ◽  
Lucas Emanuel Ferreira Canuto ◽  
Luiz Eduardo Cruz Dos Santos Correia ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Autosomal Recessive ◽  
Cleft Lip ◽  
Renal Agenesis ◽  
Present Report ◽  
Autosomal Recessive Inheritance ◽  
Normal Function ◽  
Congenital Defects ◽  
Unilateral Renal Agenesis ◽  
First Case

Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human newborns. It is a rare and lethal malformation of autosomal recessive inheritance that prevents thoracic expansion and reduces pulmonary compliance, causing respiratory failure. A pregnant bitch of undefined breed was submitted to caesarean section. At birth, a neonate exhibited respiratory distress, and the palpation of the thorax indicated absence of ribs. In addition, the newborn had cleft palate and cleft lip, which led to perform the euthanasia of the animal. Post-mortem examination indicated hypoplasia of ribs and unilateral renal agenesis. As in the canine neonate, hypoplasia of ribs in human newborns is also associated with other malformations, such as cleft lip, cleft palate, and urogenital defects. The present report describes the first case of hypoplasia of ribs associated with other malformations in a canine neonate, the cause being possibly related to a genetic hereditary factor.

scholarly journals A Successful Pregnancy and Delivery after Heart Transplantation: The First Case Report from Korea

2018 ◽  
Vol 32 (3) ◽  
pp. 69
Author(s):  
Hyo-In Choi ◽  
Jung Ae Hong ◽  
Min-Seok Kim ◽  
Sang Eun Lee ◽  
Sung-Ho Jung ◽  
...  
Keyword(s):  
Case Report ◽  
Heart Transplantation ◽  
Successful Pregnancy ◽  
First Case ◽  
Pregnancy And Delivery

scholarly journals Bartter syndrome in homozygous twins

1996 ◽  
Vol 42 (1) ◽  
pp. 28-29
Author(s):  
Z. I. Levitskaya
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Autosomal Recessive Inheritance ◽  
Bartter Syndrome ◽  
Clinical Syndrome ◽  
Prostaglandin E ◽  
Target Cells ◽  
Tubule Wall ◽  
Enzymatic Defect ◽  
Number Of Authors

Bartter syndrome is characterized by hyperreninemia against the background of hyperplasia of juxtaglomerular cells, hyperaldosteronuria, potassium deficiency, metabolic alkalosis, and vascular resistance to angiotensin.A study of the pathogenetic aspects of this disease allowed a number of authors suppose that this syndrome is associated with autosomal recessive inheritance, in which there may be no sensitivity of vessels to the pressor effect of angiotensin II, impaired renal reabsorption of sodium and chlorine, increased renal production of prostaglandin E. Primary renal defect, leading to the loss of potassium also is not excluded, because bilateral adrenalectomy does not completely reduce hypokalemia. However, it is not always possible to establish a primary genetic defect.The clinical symptoms of this disease are characterized by adynamia, polyuria, polydipsia, headache, and sometimes vomiting. Blood pressure is normal or even low. Children have a lag in mental and physical development.The pathophysiology of clinical symptoms is caused either by a hereditary disorder of tubular reabsorption of potassium and secondary sodium due to an enzymatic defect in the tubule wall, or by resistance of target cells to the stimulation by renin, angiotensin, and aldosterone, the production of which increases due to a disturbed feedback mechanism.In foreign literature, a description of this syndrome is quite rare. This fact was the basis for the publication of a similar clinical syndrome in homozygous twins - brothers A. and D. born in 1967, who were followed up for 3 years.

scholarly journals A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qianwen Zhang ◽  
Ruen Yao ◽  
Qun Li ◽  
Xin Li ◽  
Biyun Feng ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Missense Variant ◽  
Type Ii ◽  
Molecular Defects ◽  
Homozygous Variant ◽  
First Case ◽  
Dominant Disease ◽  
Epiphyseal Dysplasia ◽  
Chinese Male

Abstract Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal dominant disease, whereas some rare cases with autosomal recessive inheritance of mode have also been identified. Case presentation The patient was a 5-year-old male with a short neck, flat face, epiphyseal dysplasia, irregular vertebral endplates, and osteochondritis. Sequencing result indicated NM_001844.4: c.3662C > T; p. (Ser1221Phe) a novel missense variant, leading to a serine-to-phenylalanine substitution. Sanger sequencing confirmed the variant compared to his parents and brother. Conclusions We identified a novel homozygous variant of the COL2A1 gene as the cause of type II collagenopathies in a Chinese male, enriching the spectrum of genotypes. This is the first case of type II collagenopathies inherited in an autosomal recessive manner in China and East Asia, and it is the first case that resulted from serine substitution in the world.

scholarly journals A Unique case report of successful pregnancy and delivery after being treated with pioglitazone and glimepiride (in first three months)

2021 ◽  
Vol 7 (3) ◽  
pp. 80-81
Author(s):  
Suman Sarkar ◽  
Kingshuk Bhattacharya ◽  
Ankan Pathak ◽  
Nirmalya Roy ◽  
Nikhil Sonthalia ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Medical Literature ◽  
Pregnancy Induced Hypertension ◽  
Unique Case ◽  
Successful Pregnancy ◽  
First Case ◽  
Planned Pregnancy ◽  
Induced Hypertension ◽  
Pregnancy And Delivery

A planned pregnancy (with IVF) in a patient with type 2 diabetes was treated with insulin along with glimepiride and pioglitazone (treated in first three months) from pre-conception stages until the postpartum is reported. She delivered a single viable male child at 33 weeks of gestation due to pregnancy induced hypertension and type 2 diabetes mellitus with no abnormalities. The newborn was healthy without any congenital and other abnormalities. To our belief, this is the first case reporting the use of pioglitazone as well as glimepiride in early pregnancy. It should be noted that both of the drugs are not recommended to be used in pregnancy but we may come across situations where the patient is already exposed to these drugs and not willing to abort pregnancy and this case adds value to the existing body of medical literature in such cases

scholarly journals Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

2001 ◽  
pp. 347-351 ◽  
Author(s):  
P Saugier-Veber ◽  
N Drouot ◽  
LM Wolf ◽  
JM Kuhn ◽  
T Frebourg ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Symptoms ◽  
Novel Mutation ◽  
Autosomal Recessive Inheritance ◽  
Chronic Mucocutaneous Candidiasis ◽  
Autoimmune Regulator ◽  
Autoimmune Polyendocrinopathy ◽  
Plant Homeodomain ◽  
French Family

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is clinically characterized by the presence of two of the three major clinical symptoms: Addison's disease and/or hypoparathyroidism and/or chronic mucocutaneous candidiasis. Because of its autosomal recessive inheritance, this rare disorder constitutes an interesting model for understanding the molecular background of autoimmunity. Recently, mutations in the autoimmune regulator (AIRE-1) gene have been identified in APECED patients. Here we report, in a large French APECED family, the identification of a novel AIRE-1 missense mutation (Pro326Leu) in association with the Arg257Stop mutation which is detected in more than 80% of mutant Finnish AIRE-1 alleles. This Pro326Leu substitution occurs in the first plant homeodomain (PHD)-type zinc-finger domain of the protein which has been identified in a number of nuclear proteins involved in chromatin-mediated transcriptional regulation, such as ATRX, TIF1, KRIP-1 and Mi-2 autoantigen. This mutation highlights the key role of this amino acid in the structure of the PHD domain and confirms that exon 8 constitutes a mutational hotspot.

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance
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