scholarly journals A rare case of male Turner syndrome for penetrating keratoplasty

2017 ◽  
Vol 3 (10) ◽  
pp. 274
Author(s):  
Shobha Ravishankar
Keyword(s):  
Turner Syndrome ◽  
Genetic Disorder ◽  
Physiological Changes ◽  
Hearing Impairments ◽  
Short Neck ◽  
Mandibular Hypoplasia ◽  
Liver And Kidney ◽  
Bronchial Intubation ◽  
Complex Genetic Disorder ◽  
Endotracheal Extubation

<p class="abstract"><span lang="EN-IN">Turner syndrome (TS) is a complex genetic disorder. These abnormalities especially those relating to the airway and cardiovascular system, pose a challenge to the anaesthesiologist. The main anatomo-physiological changes pertaining to the anaesthesiologist include a short neck, maxillary and mandibular hypoplasia which might be responsible for difficult airway. The shorter length of trachea as well as higher location of its bifurcation predispose to bronchial intubation and accidental endotracheal extubation when tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastro intestinal disorders, liver and kidney changes as well as osteoarticular involvement besides ophthalmologic and hearing impairments are very frequent and should be detected during pre-anaesthetic evaluation. The incidence of TS is variously reported as 1:3000 to 1:10000 live (female) births. Very few cases of male turner have been reported in literature</span><span lang="EN-IN">. </span></p><p class="abstract"> </p>

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals 0897 Sleep Disordered Breathing In Pediatric Patients With Turner Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn
Keyword(s):  
Sleep Apnea ◽  
Turner Syndrome ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Genetic Disorder ◽  
Case Series ◽  
Growth Failure ◽  
Retrospective Chart Review ◽  
Upper Airway Resistance Syndrome ◽  
Disordered Breathing

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.

Loss of FancC Function Results in Decreased Hematopoietic Stem Cell Repopulating Ability

Blood ◽  
1999 ◽  
Vol 94 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Laura S. Haneline ◽  
Troy A. Gobbett ◽  
Rema Ramani ◽  
Madeleine Carreau ◽  
Manuel Buchwald ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell ◽  
Cell Function ◽  
Genetic Disorder ◽  
Test Cell ◽  
Hematopoietic Stem ◽  
Murine Homologue ◽  
Complex Genetic Disorder

Fanconi anemia (FA) is a complex genetic disorder characterized by progressive bone marrow (BM) aplasia, chromosomal instability, and acquisition of malignancies, particularly myeloid leukemia. We used a murine model containing a disruption of the murine homologue ofFANCC (FancC) to evaluate short- and long-term multilineage repopulating ability of FancC −/− cells in vivo. Competitive repopulation assays were conducted where “test”FancC −/− or FancC +/+ BM cells (expressing CD45.2) were cotransplanted with congenic competitor cells (expressing CD45.1) into irradiated mice. In two independent experiments, we determined that FancC −/− BM cells have a profound decrease in short-term, as well as long-term, multilineage repopulating ability. To determine quantitatively the relative production of progeny cells by each test cell population, we calculated test cell contribution to chimerism as compared with 1 × 105 competitor cells. We determined that FancC −/− cells have a 7-fold to 12-fold decrease in repopulating ability compared with FancC +/+cells. These data indicate that loss of FancC function results in reduced in vivo repopulating ability of pluripotential hematopoietic stem cells, which may play a role in the development of the BM failure in FA patients. This model system provides a powerful tool for evaluation of experimental therapeutics on hematopoietic stem cell function.

scholarly journals Bidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndrome

2021 ◽  
Author(s):  
Jacob L Ransom ◽  
Ka C Wong ◽  
Jacqueline Kircher ◽  
Courtney Usry ◽  
Christopher Larson
Keyword(s):  
Differential Diagnosis ◽  
Ventricular Tachycardia ◽  
Beta Blocker ◽  
Genetic Disorder ◽  
Symptom Burden ◽  
Young Female ◽  
Ventricular Ectopy ◽  
Digitalis Toxicity ◽  
Ventricular Dysrhythmia ◽  
Mandibular Hypoplasia

ABSTRACT Bidirectional ventricular tachycardia (VT) is a rare ventricular dysrhythmia with a limited differential diagnosis that includes digitalis toxicity, catecholaminergic polymorphic VT, aconite poisoning, and genetic channelopathy syndromes, specifically, Andersen–Tawil syndrome (ATS). We present a case of a young female with palpitations found to have bidirectional VT on cardiac event monitor and strong family history of cardiac dysrhythmias. Her physical examination findings included minor dysmorphic features of mandibular hypoplasia, hypertelorism, and clinodactyly. The patient was clinically diagnosed with ATS and started on a beta-blocker for control of ectopy. A second Holter review demonstrated markedly decreased burden of ventricular ectopy compared to the initial monitoring. She was referred for genetic testing, which revealed a KCNJ2 mutation. Bidirectional VT is an uncommon ventricular dysrhythmia that has a limited differential diagnosis, one of which is ATS—a rare genetic disorder that results from mutations in the KCNJ2 gene. The condition is frequently associated with developmental, skeletal, and cardiac abnormalities. Although there are no strong recommendations that exist for treatment of ventricular dysrhythmias associated with this genetic disorder, we demonstrate a case of clinical improvement in a patient with ATS by using the beta-blocker metoprolol succinate. Furthermore, we propose that ATS patients may not need exercise restrictions as overall ventricular ectopy burden decreased with exercise and there was no prolongation of the QT interval. This patient will continue to follow up in our clinic to reassess symptom burden and for continued monitoring for the development of any new features.

scholarly journals Ghrelin-Reactive Autoantibodies are elevated in Children with Prader-Willi Syndrome

2016 ◽  
Author(s):  
Gabrielle Crisp ◽  
Ohn Nyunt ◽  
Lisa Chopin ◽  
Inge Seim ◽  
Mark Harris ◽  
...  
Keyword(s):  
Pediatric Population ◽  
Genetic Disorder ◽  
Peptide Hormone ◽  
Prader Willi Syndrome ◽  
Acylated Ghrelin ◽  
Carrier Proteins ◽  
Unacylated Ghrelin ◽  
Complex Genetic Disorder ◽  
Growth Abnormalities ◽  
Insatiable Appetite

AbstractPrader-Willi Syndrome (PWS) is a complex genetic disorder characterized by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). The underlying cause of hyperphagia in PWS is currently unknown, however, elevated levels of the peptide hormone ghrelin is believed to contribute. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity. These autoantibodies act as ghrelin carrier proteins and potentiate its orexigenic effects. Here, we describe the identification of ghrelin-reactive autoantibodies in a cohort of 16 children with PWS. In comparison to unaffected siblings, autoantibody levels are significantly increased in PWS children. We further show that autoantibody levels are unaffected by food intake, unlike plasma ghrelin which declines postprandially in both groups. Critically, we also demonstrate that the autoantibodies bind the major circulating ghrelin isoforms, unacylated ghrelin, which does not stimulate appetite, and the orexigen acylated ghrelin. In excess, unacylated ghrelin may compete with acylated ghrelin for autoantibody binding. Taken together, this is the first report on ghrelin-reactive antibodies in a pediatric population, and the first to demonstrate that the antibodies do not discriminate between orexigenic and non-orexigenic ghrelin isoforms. Our work suggests that ghrelin autoantibodies can be targeted using non-orexigenic forms of ghrelin, thereby providing a novel therapeutic target for PWS and for obesity in general.

scholarly journals Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

2021 ◽  
Vol 9 ◽  
Author(s):  
Nidia Moreno-Corona ◽  
Loïc Chentout ◽  
Lucie Poggi ◽  
Romane Thouenon ◽  
Cecile Masson ◽  
...  
Keyword(s):  
Viral Infections ◽  
Genetic Disorder ◽  
Pi3 Kinase ◽  
Pi3k Signaling ◽  
Gene Encoding ◽  
Regulatory Subunits ◽  
Neurodevelopmental Delay ◽  
Exon 11 ◽  
Complex Genetic Disorder ◽  
Splice Product

Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the PIK3R1 gene responsible for an alternative splice product and a shortened protein. The clinical presentation of APDS2 patients is highly variable, ranging from mild to profound combined immunodeficiency features as massive lymphoproliferation, increased susceptibility to bacterial and viral infections, bronchiectasis, autoimmune manifestations, and occurrence of cancer. Non-immunological features such as growth retardation and neurodevelopmental delay have been reported for APDS2 patients. Here, we describe a patient suffering from an APDS2 associated with a Smith–Magenis syndrome (SMS), a complex genetic disorder affecting, among others, neurological manifestations and review the literature describing neurodevelopmental impacts in APDS2 and other PIDs/monogenetic disorders associated with dysregulated PI3K signaling.

Clinical Profile of Polycystic Ovarian Syndrome Patients In Tertiary Care Hospital

2021 ◽  
Vol 8 (3) ◽  
pp. 99-103
Author(s):  
Dr. Urmila Gavali ◽  
Dr. Mayuri Pawar ◽  
Dr. Gautam Aher ◽  
Dr. Suhas Shinde
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Care Hospital ◽  
Tertiary Care Centre ◽  
Cross Sectional ◽  
Clinical Presentations ◽  
Complex Genetic Disorder ◽  
Uncertain Etiology ◽  
Ovarian Syndrome

ABSTRACT: Background: Polycystic ovarian syndrome (PCOS)is common gynecological endocrinopathy characterized by chronic anovulation and hyperandrogenism affecting 5-10% of women worldwide.  It is a heterogenous, multifactorial, complex genetic disorder with uncertain etiology and is one of the most common treatable cause of infertility. AIM: To study the various clinical presentations in polycystic ovarian syndrome. MATERIALS AND METHODS: Present study is cross sectional observational study carried out in tertiary care centre. This study was performed in the Out Patient Department of Obstetrics and Gynecology. RESULTS: The mean age of 41 patients in the study was 23.6 years. Most common presenting symptom in patients is menstrual irregularities (89%) followed by infertility and hirsutism. USG (abdo+pelvis) showing polycystic ovarian syndrome ovaries. Around 39% patients with PCOS developed insulin resistance. KEYWORDS: - Amenorrhea, Infertility, Oligomenorrhea, Polycystic Ovarian Syndrome.

Three Patients with CPT1A Deficiency: Literature Review and Case Series

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Mahdieh Saatchi ◽  
Sana Taghiyar
Keyword(s):  
Genetic Disorder ◽  
Case Series ◽  
Autosomal Recessive Inheritance ◽  
Abnormal Liver Function Test ◽  
Medical Procedures ◽  
Main Method ◽  
Appropriate Treatment ◽  
Liver And Kidney ◽  
Renal Tubular

Background: Carnitine palmitoyltransferase 1A deficiency is a rare genetic disorder with autosomal recessive inheritance pattern of fatty acid metabolism secondary to CPT1A mutation. Several dozen infants and children have been described with a deficiency of the liver and kidney CPT1 isoenzyme (CPT1-A). Clinical manifestation includes fasting-induced hypoketotic hypoglycemia, occasionally with extremely abnormal liver function test (LFT) and rarely with renal tubular acidosis. Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency.  Prompt treatment of hypoglycemia includes intravenous fluid containing 10% dextrose. To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night. Fasting should not last more than 12 hours during illness, surgery, or medical procedures. Case Presentation: We reported three patients with CPT1A deficiency presented with hypoglycemia and Reye like syndrome in early childhood that with early diagnosis and treatment they are well in follow-up. Conclusion: Prognosis of this genetic disorder will be good with appropriate treatment.

scholarly journals Altered Brain Structure in Infants with Turner Syndrome

2019 ◽  
Vol 30 (2) ◽  
pp. 587-596 ◽  
Author(s):  
M L Davenport ◽  
E Cornea ◽  
K Xia ◽  
J J Crowley ◽  
M W Halvorsen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Behavioral Problems ◽  
Brain Structure ◽  
Genetic Disorder ◽  
Estrogen Therapy ◽  
Occipital Cortex ◽  
Typically Developing ◽  
Older Individuals ◽  
Older Children ◽  
Increased Risk

Abstract Turner syndrome (TS) is a genetic disorder affecting approximately 1:2000 live-born females. It results from partial or complete X monosomy and is associated with a range of clinical issues including a unique cognitive profile and increased risk for certain behavioral problems. Structural neuroimaging studies in adolescents, adults, and older children with TS have revealed altered neuroanatomy but are unable to identify when in development differences arise. In addition, older children and adults have often been exposed to years of growth hormone and/or exogenous estrogen therapy with potential implications for neurodevelopment. The study presented here is the first to test whether brain structure is altered in infants with TS. Twenty-six infants with TS received high-resolution structural MRI scans of the brain at 1 year of age and were compared to 47 typically developing female and 39 typically developing male infants. Results indicate that the typical neuroanatomical profile seen in older individuals with TS, characterized by decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex, is already present at 1 year of age, suggesting a stable phenotype with origins in the prenatal or early postnatal period.

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