scholarly journals ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Anne K. Braczynski ◽  
Stefan Vlaho ◽  
Klaus Müller ◽  
Ilka Wittig ◽  
Anna-Eva Blank ◽  
...  
Keyword(s):  
Atp Synthase ◽  
Clinical Symptoms ◽  
Failure To Thrive ◽  
Symptomatic Treatment ◽  
Ethnic Origin ◽  
Homozygous Mutation ◽  
Mitochondrial Atp Synthase ◽  
Life Threatening ◽  
Crystalloid Inclusions ◽  
Methylglutaconic Aciduria

TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in theTMEM70gene impair oxidative phosphorylation. Herein, we report on pathology and treatment of ATP synthase deficiency in four siblings. A consanguineous family of Roma (Gipsy) ethnic origin gave birth to 6 children of which 4 were affected presenting with dysmorphic features, failure to thrive, cardiomyopathy, metabolic crises, and 3-methylglutaconic aciduria as clinical symptoms. Genetic testing revealed a homozygous mutation (c.317-2A>G) in theTMEM70gene. While light microscopy was unremarkable, ultrastructural investigation of muscle tissue revealed accumulation of swollen degenerated mitochondria with lipid crystalloid inclusions, cristae aggregation, and exocytosis of mitochondrial material. Biochemical analysis of mitochondrial complexes showed an almost complete ATP synthase deficiency. Despite harbouring the same mutation, the clinical outcome in the four siblings was different. Two children died within 60 h after birth; the other two had recurrent life-threatening metabolic crises but were successfully managed with supplementation of anaplerotic amino acids, lipids, and symptomatic treatment during metabolic crisis. In summary,TMEM70mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.

scholarly journals Illékony nitritszármazékok („popperek”) által okozott methaemoglobinaemia

2021 ◽  
Vol 162 (8) ◽  
pp. 306-313
Author(s):  
Ágnes Bakos ◽  
Anna Bátyi
Keyword(s):  
Clinical Symptoms ◽  
Symptomatic Treatment ◽  
Gay And Bisexual Men ◽  
Bisexual Men ◽  
Alkyl Nitrites ◽  
Oral Consumption ◽  
Good General Condition ◽  
Life Threatening ◽  
And Bisexual ◽  
Oxidative Agents

Összefoglaló. A methaemoglobinaemia az oxigén szállítására képtelen methemoglobin szintjének kóros emelkedését jelenti a vérben, ami jelentős szöveti oxigénhiányt okozhat, súlyos, akár életveszélyes tünetekhez vezethet. Methaemoglobinaemiát számos, oxidáló hatású exogén anyag idézhet elő, ezek közé tartoznak a partidrogként használt alkil-nitritek, az ún. „popperek” is. A „poppereket” korábban „alacsony rizikójú” drogként tartották számon, azonban számos esetet közöltek, amikor súlyos, időnként fatális kimenetelű methaemoglobinaemiát okoztak. A folyadékok gőzének belélegzése euforizáló, szexuálisvágy-fokozó és simaizom-lazító hatású, ezért a „popperek” igen népszerűek a homo- és biszexuális férfiak körében, de fiatal felnőttek és tinédzserek is használják. A folyadékok szájon át való fogyasztása különösen veszélyes. A szerzők két esetet ismertetnek, amelyekben a „popperek” használatát követően methaemoglobinaemia alakult ki. Mindkét betegnél, a jó általános állapot mellett, centrális és perifériás cyanosis tüneteit észlelték. Az alkalmazás módja (inhaláció/lenyelés), a methaemoglobinaemia súlyossága (16,4% és 57%) és a terápia eltérő volt a két betegnél. Az első beteg oxigén adása és tüneti kezelés mellett gyógyult, a másodiknál antidotum (metilénkék) adására is szükség volt. Mindketten panaszmentesen távoztak a kórházból. A szerzők célja az volt, hogy felhívják a figyelmet az illékony alkil-nitrit-származékok által okozott methaemoglobinaemiára, annak felismerésére, kezelésére, és bemutassák azok kevésbé ismert szövődményeit is. Orv Hetil. 2021; 162(8): 306–313. Summary. Methemoglobinemia means the abnormally elevated level of methemoglobin in the blood, which is incapable of oxygen transport, accordingly it can cause significant tissue hypoxia, leading to severe or even life-threatening clinical symptoms. Several exogen oxidative agents can induce methemoglobinemia, including alkyl-nitrites which are also used as party drugs, the so-called ‘poppers’. The ‘poppers’ were previously considered ‘low-risk’ drugs, however, several cases have been published when they caused severe, sometimes fatal methemoglobinemia. Inhaling vapours from liquids has euphoric, smooth-muscle relaxing and aphrodisiac effects, therefore ‘poppers’ are extremely popular among gay and bisexual men but also used by young adults and teenagers. Oral consumption of the fluids is particularly dangerous. The authors present two cases when methemoglobinemia developed after ‘poppers’ usage. Both patients were in good general condition and symptoms of central and peripheral cyanosis were detected. The method of application (inhalation/ ingestion), the severity of methemoglobinemia (16,4% and 57%) and the treatment were different in the two patients. The first patient recovered with inhalation of oxygen and symptomatic treatment; the second patient required administration of antidote (methylene blue). Both patients left the hospital without complaints. The authors’ aim was to attract attention to methemoglobinemia caused by volatile alkyl-nitrites, its recognition, treatment and to present their lesser-known complications. Orv Hetil. 2021; 12(8): 306–313.

scholarly journals Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis

2020 ◽  
Vol 54 (3) ◽  
pp. 227-229
Author(s):  
Stayroula Papailiou ◽  
Elpis Athina Vlachopapadopoulou ◽  
Amalia Sertedaki ◽  
Despoina Maritsi ◽  
Nikolaos Syggelos ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Mutations ◽  
Failure To Thrive ◽  
Homozygous Mutation ◽  
Type Ii ◽  
Inherited Disease ◽  
Aldosterone Synthase ◽  
Hormonal Profile ◽  
Life Threatening ◽  
Aldosterone Synthase Deficiency

AbstractObjective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings.Case presentation. We herein describe an unusual case of ASD type II in a neonate with faltering growth as a single presenting symptom. To our knowledge, this is the first Greek case of ASD type II reported with confirmed genetic analysis. Next generation sequencing of her DNA revealed the homozygous mutation p.T185I (ACC-ATC) (c.554C>T) (g.7757C>T) in exon 3 of the CYP11B2 gene in the neonate, inherited from both parents who were heterozygotes for the mutation.Conclusions. Physicians handling neonates with faltering growth, particularly in the initial six weeks of life, should be suspicious of mineralocorticoid insufficiency either as isolated hypoaldosteronism or in the context of congenital adrenal hyperplasia. Essential investigations should be performed and appropriate treatment should be administered promptly without awaiting for the hormonal profile results. Interpretation of the clinical picture and the hormonal profile will guide the analysis of candidate genes. Primary selective hypoaldosteronism is a rare, life threatening disease, but still with an unknown overall population impact. Thus, reporting cases with confirmed gene mutations is of major importance.

scholarly journals Mitochondrial ATP-Synthase Deficiency in a Child with 3-Methylglutaconic Aciduria

1992 ◽  
Vol 32 (6) ◽  
pp. 731-736 ◽  
Author(s):  
Elisabeth Holme ◽  
Joachim Greter ◽  
Carl-Eric Jacobson ◽  
Nils-Göran Larsson ◽  
Sven Lindstedt ◽  
...  
Keyword(s):  
Atp Synthase ◽  
Mitochondrial Atp Synthase ◽  
Methylglutaconic Aciduria

Analiza leczenia pacjentów zakażonych pałeczką Salmonella na Oddziale Pediatrycznym Warszawskiego Szpitala dla Dzieci

2019 ◽  
Vol 23 (3) ◽  
Author(s):  
Agata Cichal ◽  
Agnieszka Wypych
Keyword(s):  
Clinical Symptoms ◽  
Clinical Problem ◽  
Symptomatic Treatment ◽  
Lymph Glands ◽  
Time Period ◽  
Number Of Patients ◽  
Life Threatening ◽  
Poisoning In Children ◽  
The Impact ◽  
Third Generation Cephalosporins

Introduction. Salmonella poisoning (salmonellosis) poses a serious clinical problem for pediatricians. Consumption of infected food is the primary cause of the illness. The symptoms of salmonella poisoning can vary, ranging from mild gastroenteritis to the more severe, including septicaemia which can be life-threatening. Aim. The aim is to analyse the treatment of salmonella poisoning in children admitted to the Children's Hospital in Warsaw and to study the impact of certain clinical symptoms, the outcome of laboratory tests and scans and the effectiveness of different therapies. Material and methods. This is a retrospective study of 79 children admitted to the Children's Ward during the time period of January 2016 to May 2016. The children were diagnosed with salmonella poisoning following microbiological tests. Two different pathways were studied: firstly, the treatment administered solely to alleviate symptoms, and secondly, the treatment which included administration of antibiotics. Results. The time period of the presentation of symptoms prior to hospital admission was similar for both groups. The percentage of patients with fever, high levels of infection and raised levels of immature neutrophils in blood samples and signs of bowel inflammation showing in scan tests was significantly higher in those children requiring antibiotics. The number of patients where blood in the stools and enlarged lymph glands were observed was similar in both groups. Conclusions. The most common serotype to be isolated was Salmonella enteridis. The majority of patients in the ward diagnosed with salmonella poisoning required only symptomatic treatment. Antibiotics were administered only in the more severe cases where bacteremia was suspected. In all the cases the most frequently administered medication was Sulfamethoxazole. In children presenting a systemic inflammatory response third generation cephalosporins were administered.

Cutaneous Adverse Events of Immune Checkpoint Inhibitors: A Summarized Overview

2019 ◽  
Vol 14 (1) ◽  
pp. 14-20 ◽  
Author(s):  
Kerasia-Maria Plachouri ◽  
Eleftheria Vryzaki ◽  
Sophia Georgiou
Keyword(s):  
Side Effects ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Skin Toxicity ◽  
Maculopapular Rash ◽  
Symptomatic Treatment ◽  
Stevens Johnson Syndrome ◽  
Life Threatening ◽  
Skin Side Effects

Background:The introduction of Immune Checkpoint Inhibitors in the recent years has resulted in high response rates and extended survival in patients with metastatic/advanced malignancies. Their mechanism of action is the indirect activation of cytotoxic T-cells through the blockade of inhibitory receptors of immunomodulatory pathways, such as cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4), programmed cell death protein-1 (PD-1) and its ligand (PD-L1). Despite their impressive therapeutic results, they can also induce immune-related toxicity, affecting various organs, including the skin.Objective:To provide an updated summarized overview of the most common immune-mediated cutaneous side effects and their management.Method:English articles derived from the databases PubMed and SCOPUS and published between 2009 and 2018, were analyzed for this narrative review.Results:The most common adverse cutaneous reactions include maculopapular rash, lichenoid reactions, vitiligo and pruritus, with severity Grade 1 or 2. Less frequent but eventually life-threatening skin side effects, including Stevens-Johnson syndrome, Drug Reaction with Eosinophilia and Systemic Symptoms and Toxic Epidermal necrolysis, have also been reported.Conclusion:Basic knowledge of the Immune-Checkpoint-Inhibitors-induced skin toxicity is necessary in order to recognize these treatment-related complications. The most frequent skin side effects, such as maculopapular rash, vitiligo and pruritus, tend to subside under symptomatic treatment so that permanent discontinuation of therapy is not commonly necessary. In the case of life-threatening side effects, apart from the necessary symptomatic treatment, the immunotherapy should be permanently stopped. Information concerning the management of ICIs-mediated skin toxicity can be obtained from the literature as well as from the Summary of Product Characteristics of each agent.

scholarly journals Treatment and therapeutic strategies for pituitary apoplexy in pregnancy: a case series

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yuya Kato ◽  
Yoshikazu Ogawa ◽  
Teiji Tominaga
Keyword(s):  
Pituitary Apoplexy ◽  
Clinical Symptoms ◽  
Case Series ◽  
Optimal Timing ◽  
Presenting Symptoms ◽  
Pathological Evaluation ◽  
Mother And Child ◽  
Life Threatening ◽  
In Pregnancy

Abstract Background Pregnancy is a known risk factor for pituitary apoplexy, which is life threatening for both mother and child. However, very few clinical interventions have been proposed for managing pituitary apoplexy in pregnancy. Case presentation We describe the management of three cases of pituitary apoplexy during pregnancy and review available literature. Presenting symptoms in our case series were headache and/or visual disturbances, and the etiology in all cases was hemorrhage. Conservative therapy was followed until 34 weeks of gestation, after which babies were delivered by cesarean section with prophylactic bolus hydrocortisone supplementation. Tumor removal was only electively performed after delivery using the transsphenoidal approach. All three patients and their babies had a good clinical course, and postoperative pathological evaluation revealed that all tumors were functional and that they secreted prolactin. Conclusions Although the mechanism of pituitary apoplexy occurrence remains unknown, the most important treatment strategy for pituitary apoplexy in pregnancy remains adequate hydrocortisone supplementation and frequent hormonal investigation. Radiological follow-up should be performed only if clinical symptoms deteriorate, and optimal timing for surgical resection should be discussed by a multidisciplinary team that includes obstetricians and neonatologists.

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