scholarly journals Report of a New Case With Pentasomy X and Novel Clinical Findings

2015 ◽  
Vol 18 (1) ◽  
pp. 85-92 ◽  
Author(s):  
Osman Demirhan ◽  
N Tanriverdi ◽  
M.B Yilmaz ◽  
S Kocaturk-Sel ◽  
N Inandiklioglu ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Postnatal Growth ◽  
Clinical Findings ◽  
Specific Pattern ◽  
Parental Origin ◽  
X Chromosomes ◽  
Female Baby ◽  
Fluorescent Polymerase Chain Reaction ◽  
Thenar Atrophy

AbstractPentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.

scholarly journals Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY

2009 ◽  
Vol 12 (1) ◽  
pp. 45-50
Author(s):  
A Guzel ◽  
O Demirhan ◽  
A Pazarbasi ◽  
B Yuksel
Keyword(s):  
X Chromosome ◽  
Language Impairment ◽  
Sex Chromosome ◽  
Peripheral Blood Cell ◽  
Banding Technique ◽  
Parental Origin ◽  
Speech Impairment ◽  
Cell Stage ◽  
Skeletal Defects ◽  
Fluorescent Polymerase Chain Reaction

Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXYPolysomy 49, XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects and genital abnormalities. We describe a patient with 49, XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicanthal folds, cryptorchidism, umbilical hernia and dysmyelinization in his brain. A GTG-banding technique was used for karyotype analysis of peripheral blood cell cultures. The parental origin of polysomy X was identified by using quantitative fluorescent polymerase chain reaction (QF-PCR) with seven short tandem repeat (STR) markers specific for the X/Y-chromosome which revealed that all the X-chromosomes were of maternal origin. This report provides evidence for successive non disjunctions in maternal meiosis I and II.

Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  
Keyword(s):  
Megaloblastic Anemia ◽  
Maternal Diet ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Failure To Thrive ◽  
Clinical Findings ◽  
Vitamin B ◽  
Animal Products ◽  
Hematological Evaluation ◽  
Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

Scabies: A Neglected Global Disease

2020 ◽  
Vol 16 (1) ◽  
pp. 33-42 ◽  
Author(s):  
Alexander K.C. Leung ◽  
Joseph M. Lam ◽  
Kin F. Leong
Keyword(s):  
English Language ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Sarcoptes Scabiei ◽  
Clinical Findings ◽  
Effective Control ◽  
Search Term ◽  
Skin Contact ◽  
Intense Pruritus ◽  
Meta Analyses

Background: Scabies is a skin disease caused by an obligate human parasite mite Sarcoptes scabiei var. hominis. Children under the age of two and elderly individuals are at the greatest risk. Knowledge of this condition is important for an early diagnosis to be made and treatment to be initiated. Objective: The review aimed to familiarize physicians with the clinical manifestations, diagnosis, evaluation, and management of scabies. Methods: A search was conducted using Pubmed with the built-in "Clinical Queries" tool. The search term "Scabies" was used. The categories of "epidemiology", "diagnosis", "therapy", "prevention" and "prognosis" had a limited scope for primary clinical studies. Meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews were included. Only papers published in the English language were included. A descriptive, narrative synthesis was provided of the retrieved articles. Results: Worldwide, scabies affects 200 to 300 million individuals annually. The average prevalence is estimated to be 5 to 10% in children of developing countries. Transmission usually occurs after close prolonged skin-to-skin contact. Classic scabies is characterized by an erythematous papular eruption, serpiginous burrows, and intense pruritus. Sites of predilection include the webs of the fingers, volar wrists, lateral aspects of fingers, extensor surfaces of elbows and knees, waist, navel, abdomen, buttocks, groins, and, genitals. A clinical diagnosis of classic scabies can be made on the basis of the history and clinical findings. Other clinical variants include crusted scabies, nodular scabies, and bullous scabies. Finding the mite, ova, or fecal pellets on microscopic examination of scrapings taken from skin lesions confirms the diagnosis of scabies infestation. For eradication of scabies mites, the drugs of choice are topical permethrin and oral ivermectin. Conclusion: Scabies is a highly contagious parasitic cutaneous disease that is stigmatising and debilitating. Increased awareness, accurate diagnosis, and prompt treatment are essential for the effective control of scabies and for the prevention of the spread of the disease.

scholarly journals Bisection of the X chromosome disrupts the initiation of chromosome silencing during meiosis in Caenorhabditis elegans

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Yisrael Rappaport ◽  
Hanna Achache ◽  
Roni Falk ◽  
Omer Murik ◽  
Oren Ram ◽  
...  
Keyword(s):  
Caenorhabditis Elegans ◽  
Rna Polymerase Ii ◽  
X Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Transcription Analysis ◽  
X Chromosomes ◽  
Unique Character ◽  
Active Transcription ◽  
Heterogametic Sex

AbstractDuring meiosis, gene expression is silenced in aberrantly unsynapsed chromatin and in heterogametic sex chromosomes. Initiation of sex chromosome silencing is disrupted in meiocytes with sex chromosome-autosome translocations. To determine whether this is due to aberrant synapsis or loss of continuity of sex chromosomes, we engineered Caenorhabditis elegans nematodes with non-translocated, bisected X chromosomes. In early meiocytes of mutant males and hermaphrodites, X segments are enriched with euchromatin assembly markers and active RNA polymerase II staining, indicating active transcription. Analysis of RNA-seq data showed that genes from the X chromosome are upregulated in gonads of mutant worms. Contrary to previous models, which predicted that any unsynapsed chromatin is silenced during meiosis, our data indicate that unsynapsed X segments are transcribed. Therefore, our results suggest that sex chromosome chromatin has a unique character that facilitates its meiotic expression when its continuity is lost, regardless of whether or not it is synapsed.

scholarly journals Neuralgic amyotrophy: an underrecognized entity

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110065
Author(s):  
Tae Uk Kim ◽  
Min Cheol Chang
Keyword(s):  
Clinical Practice ◽  
Magnetic Resonance ◽  
Clinical Manifestations ◽  
Clinical History ◽  
Cervical Radiculopathy ◽  
Sudden Onset ◽  
Clinical Findings ◽  
Magnetic Resonance Neurography ◽  
Essential Information ◽  
Neuralgic Amyotrophy

Neuralgic amyotrophy (NA) is markedly underdiagnosed in clinical practice, and its actual incidence rate is about 1 per 1000 per year. In the current article, we provide an overview of essential information about NA, including the etiology, clinical manifestations, diagnostic investigations, differential diagnosis, treatment, and prognosis. The causes of NA are multifactorial and include immunological, mechanical, or genetic factors. Typical clinical findings are a sudden onset of pain in the shoulder region, followed by patchy flaccid paralysis of muscles in the shoulder and/or arm. A diagnosis of NA is based on a patient’s clinical history and physical examination. Gadolinium-enhanced magnetic resonance imaging and high-resolution magnetic resonance neurography are useful for confirming the diagnosis and choosing the appropriate treatment. However, before a diagnosis of NA is confirmed, other disorders with similar symptoms, such as cervical radiculopathy or rotator cuff tear, need to be ruled out. The prognosis of NA depends on the degree of axonal damage. In conclusion, many patients with motor weakness and pain are encountered in clinical practice, and some of these patients will exhibit NA. It is important that clinicians understand the key features of this disorder to avoid misdiagnosis.

scholarly journals Absence of X-chromosome dosage compensation in the primordial germ cells of Drosophila embryos

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ryoma Ota ◽  
Makoto Hayashi ◽  
Shumpei Morita ◽  
Hiroki Miura ◽  
Satoru Kobayashi
Keyword(s):  
X Chromosome ◽  
Germ Cells ◽  
Dosage Compensation ◽  
Sex Chromosome ◽  
Primordial Germ Cells ◽  
Histone H4 ◽  
X Chromosomes ◽  
Essential Components ◽  
Msl Complex ◽  
Male Specific

AbstractDosage compensation is a mechanism that equalizes sex chromosome gene expression between the sexes. In Drosophila, individuals with two X chromosomes (XX) become female, whereas males have one X chromosome (XY). In males, dosage compensation of the X chromosome in the soma is achieved by five proteins and two non-coding RNAs, which assemble into the male-specific lethal (MSL) complex to upregulate X-linked genes twofold. By contrast, it remains unclear whether dosage compensation occurs in the germline. To address this issue, we performed transcriptome analysis of male and female primordial germ cells (PGCs). We found that the expression levels of X-linked genes were approximately twofold higher in female PGCs than in male PGCs. Acetylation of lysine residue 16 on histone H4 (H4K16ac), which is catalyzed by the MSL complex, was undetectable in these cells. In male PGCs, hyperactivation of X-linked genes and H4K16ac were induced by overexpression of the essential components of the MSL complex, which were expressed at very low levels in PGCs. Together, these findings indicate that failure of MSL complex formation results in the absence of X-chromosome dosage compensation in male PGCs.

scholarly journals Distribution of diandric and digynic triploidy depending on gestational age

2021 ◽  
Author(s):  
Diana Massalska ◽  
Katarzyna Ozdarska ◽  
Tomasz Roszkowski ◽  
Julia Bijok ◽  
Anna Kucińska-Chahwan ◽  
...  
Keyword(s):  
Gestational Age ◽  
Pregnancy Loss ◽  
First Trimester ◽  
Parental Origin ◽  
Second Trimester ◽  
Chain Reaction ◽  
Spontaneous Pregnancy ◽  
First Trimester Of Pregnancy ◽  
Polymerase Chain ◽  
Fluorescent Polymerase Chain Reaction

Abstract Purpose To establish the distribution of diandric and digynic triploidy depending on gestational age. Methods 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: <11 gestational weeks, 11–14 gestational weeks, and >14 gestational weeks. Results Diandric triploidy constituted overall 44.9% (46.5% in samples miscarried <11 gestational weeks, 64.3% in samples miscarried between 11 and 14 gestational weeks, and 27.8% in pregnancies which survived >14 gestational weeks). Conclusions The distribution of diandric and digynic triploidy depends on gestational age. The majority of diandric triploid pregnancies is lost in the first trimester of pregnancy. In the second trimester, diandric cases are at least twice less frequent than digynic ones.

scholarly journals Chikungunya Manifestations and Viremia in Patients Who Presented to the Fever Clinic at Bangkok Hospital for Tropical Diseases during the 2019 Outbreak in Thailand

2021 ◽  
Vol 6 (1) ◽  
pp. 12
Author(s):  
Hisham A Imad ◽  
Juthamas Phadungsombat ◽  
Emi E Nakayama ◽  
Sajikapon Kludkleeb ◽  
Wasin Matsee ◽  
...  
Keyword(s):  
Chikungunya Virus ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Acute Stage ◽  
Tropical Diseases ◽  
Healthy Individuals ◽  
Rt Pcr ◽  
Viral Loads ◽  
The Family ◽  
Systemic Symptoms

Chikungunya virus is an Alphavirus belonging to the family Togaviridae that is transmitted to humans by an infected Aedes mosquito. Patients develop fever, inflammatory arthritis, and rash during the acute stage of infection. Although the illness is self-limiting, atypical and severe cases are not uncommon, and 60% may develop chronic symptoms that persist for months or even for longer durations. Having a distinct periodical epidemiologic outbreak pattern, chikungunya virus reappeared in Thailand in December 2018. Here, we describe a cohort of acute chikungunya patients who had presented to the Bangkok Hospital for Tropical Diseases during October 2019. Infection was detected by a novel antigen kit and subsequently confirmed by real-time RT-PCR using serum collected at presentation to the Fever Clinic. Other possible acute febrile illnesses such as influenza, dengue, and malaria were excluded. We explored the sequence of clinical manifestations at presentation during the acute phase and associated the viral load with the clinical findings. Most of the patients were healthy individuals in their forties. Fever and arthralgia were the predominant clinical manifestations found in this patient cohort, with a small proportion of patients with systemic symptoms. Higher viral loads were associated with arthralgia, and arthralgia with the involvement of the large joints was more common in female patients.

CLINICAL CONFERENCE

PEDIATRICS ◽  
1957 ◽  
Vol 20 (4) ◽  
pp. 740-746
Author(s):  
Melvin M. Grumbach
Keyword(s):  
Sex Difference ◽  
Sex Chromosome ◽  
Good Evidence ◽  
Polymorphonuclear Neutrophils ◽  
Vaginal Mucosa ◽  
Simple Method ◽  
X Chromosomes ◽  
Cytologic Examination ◽  
Sex Development ◽  
Sex Chromatin

Dr. Grumbach: Barr and associates have demonstrated that in the human the majority of somatic cells of females contain a conspicuous, heterochromatic mass of chromatin in the resting nuclei. Their discovery of a sex-difference in intermitotic nuclei of a number of vertebrate species, including man, has provided a relatively simple method for assessing the sex-chromosome constitution. This chromatin mass is about 1 micron in diameter and often plano-convex in configuration. It is usually located against the inner surface of the nuclear membrane and contains desoxyribonucleic acid. In males, a comparable chromatin mass is rarely found, never in more than a few per cent of the nuclei. There is good evidence that this so-called "sexchromatin" represents the fusion of heterochromatic portions of two X-chromosomes. The sex chromatin can be conveniently determined by examination of specimens of skin obtained by biopsy (Fig. 1). Recently, more practical methods for determining cytologic sex have been described employing smears from readily available tissues, such as the oral and vaginal mucosa (Fig. 2) and the blood. Davidson and Smith have shown that there is a sex difference in the morphology of polymorphonuclear neutrophils. Cytologic examination of chromosomal sex has provided an important tool for the investigation of anomalies of sex development. Apart from its ancillary role in diagnosis, cytologic examination of sex chromatin has made a significant contribution to our understanding of the disordered development in these afflictions. However, the results of this determination should not be regarded as an especial indication of the psychosexual orientation of patients with such abnormalities, nor, in the case of infants, of the sex to which they should be assigned.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

Sign in / Sign up

Export Citation Format

Share Document