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1.
Nutrients ; 13(8)2021 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-34444861

RESUMO

So far, there is no consistent and convincing theory explaining the pathogenesis of migraines. Vascular disorders, the effect of oxidative stress on neurons, and the contribution of magnesium-calcium deficiencies in triggering cortical depression and abnormal glutaminergic neurotransmission are taken into account. However, there are no reliable publications confirming the role of dietary deficits of magnesium and latent tetany as factors triggering migraine attacks. The aim of the study was to evaluate the influence of latent magnesium deficiency assessed with the electrophysiological tetany test on the course of migraine. The study included: a group of 35 patients (29 women and six men; in mean age 41 years) with migraine and a control group of 24 (17 women and seven men; in mean age 39 years) healthy volunteers. Migraine diagnosis was based on the International Headache Society criteria, 3rd edition. All patients and controls after full general and neurological examination were subjected to a standard electrophysiological ischemic tetany test. Moreover, the level of magnesium in blood serum was tested and was in the normal range in all patients. Then, the incidence of a positive tetany EMG test results in the migraine group and the results in the subgroups with and without aura were compared to the results in the control group. Moreover, the relationship between clinical markers of spasmophilia and the results of the tetany test was investigated in the migraine group. As well as the relationship between migraine frequency and tetany test results. There was no statistically significant difference in the occurrence of the electrophysiological exponent of spasmophilia between the migraine and control group. Neither correlation between the occurrence of clinical symptoms nor the frequency of migraine attacks and the results of the tetany test was stated (p > 0.05). However, there was an apparent statistical difference between the subgroup of migraine patients with aura in relation to the control group (p < 0.05). The result raises hope to find a trigger for migraine attacks of this clinical form, the more that this factor may turn out to be easy to supplement with dietary supplementation.


Assuntos
Eletromiografia/métodos , Deficiência de Magnésio/fisiopatologia , Transtornos de Enxaqueca/etiologia , Período Refratário Eletrofisiológico , Tetania/fisiopatologia , Adulto , Estudos de Casos e Controles , Causalidade , Membrana Celular/fisiologia , Feminino , Humanos , Magnésio/sangue , Deficiência de Magnésio/complicações , Deficiência de Magnésio/diagnóstico , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/sangue , Estado Nutricional , Potássio/sangue , Tetania/complicações , Tetania/diagnóstico , Adulto Jovem
2.
Acta Myol ; 39(1): 36-39, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32607479

RESUMO

Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal distal convoluted tubule segment, mutations in the KCNA1 gene encoding for Kv1.1 has been associated with hypomagnesemia with myokymia and tetanic crises. Here we describe a case of a young female patient who came to our attention for a history of muscular spasms, tetanic episodes and muscle weakness, initially misdiagnosed for fibromyalgia. After a genetic screening she was found to be carrier of the c.736A > G (p.Asn255Asp) mutation in KCNA1, previously described in a family with autosomal dominant hypomagnesemia with muscular spasms, myokymia and tetanic episodes. However, our patient has always presented normal serum and urinary magnesium values, whereas she was affected by hypocalcemia. Calcium supplementation gave only partial clinical benefit, with an improvement on tetanic episodes yet without a clinical remission of her spasms, whereas magnesium supplementation worsened her muscular symptomatology.


Assuntos
Cálcio/administração & dosagem , Hipocalcemia , Canal de Potássio Kv1.1/genética , Magnésio/sangue , Mioquimia , Tetania , Adulto , Encéfalo/diagnóstico por imagem , Hormônios e Agentes Reguladores de Cálcio/administração & dosagem , Diagnóstico Diferencial , Feminino , Humanos , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Hipocalcemia/terapia , Imageamento por Ressonância Magnética/métodos , Mutação , Mioquimia/diagnóstico , Mioquimia/tratamento farmacológico , Mioquimia/genética , Mioquimia/fisiopatologia , Exame Neurológico/métodos , Tetania/diagnóstico , Tetania/tratamento farmacológico , Tetania/genética , Tetania/fisiopatologia
3.
Am J Case Rep ; 21: e923349, 2020 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-32475978

RESUMO

BACKGROUND Tetanus is a potentially fatal infectious disease which, during its evolution, creates multiple complications, usually requiring intensive management and care. CASE REPORT We present a clinical case of a 59-year-old male patient with generalized tetanus admitted to the intensive care unit. Flexible bronchoscopy revealed contraction of the bronchial demonstrating that tetany existed at the respiratory level, which rarely becomes evident. The clinical manifestations included trismus, facial paralysis, neck stiffness, and compromised respiratory function. The patient presented a state of respiratory failure that required invasive mechanical ventilation which was evaluated by bronchoscopy and that showed spasms of the bronchial musculature. The patient presented generalized tetanus in which the bronchial affectation was evaluated by bronchoscopy in the intensive care unit. In developed countries, the anti-tetanus toxoid vaccine has ostensibly decreased its incidence, while it is endemic in developing countries, and although there are measures such as vaccination that try to reduce its incidence, in Ecuador there is an increase in incidences. In this patient case, contraction of the bronchial rings was observed, demonstrating that tetany existed at the respiratory level, which rarely becomes evident. CONCLUSIONS Although muscular contractions are widespread, this clinical case evidences bronchial spams reported and visualized by bronchoscopy.


Assuntos
Espasmo Brônquico/diagnóstico por imagem , Tétano/diagnóstico , Tetania/diagnóstico , Antibacterianos/uso terapêutico , Espasmo Brônquico/tratamento farmacológico , Broncoscopia , Equador , Humanos , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Tétano/tratamento farmacológico , Toxoide Tetânico/uso terapêutico , Tetania/tratamento farmacológico
4.
J Ayub Med Coll Abbottabad ; 32(1): 136-138, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32468773

RESUMO

Malaria is a common public health problem which may have high morbidity and mortality. Physicians should be aware of the unusual presentations of this disease so that it can be timely diagnosed and treated. Herein we are presenting a case of falciparum malaria who presented to the hospital with carpopedal spasm and tetany. We will subsequently discuss mineral homeostasis and the mechanisms of hypocalcaemia in falciparum malaria and the dysregulation of calcium, phosphorus and magnesium metabolism.


Assuntos
Malária Falciparum , Tetania , Cálcio/sangue , Humanos , Hipocalcemia/complicações , Hipocalcemia/diagnóstico , Malária Falciparum/complicações , Malária Falciparum/diagnóstico , Masculino , Pessoa de Meia-Idade , Tetania/diagnóstico , Tetania/etiologia
5.
Mol Brain ; 13(1): 6, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31941524

RESUMO

Developing central synapses exhibit robust plasticity and undergo experience-dependent remodeling. Evidently, synapses in sensory systems such as auditory brainstem circuits mature rapidly to achieve high-fidelity neurotransmission for sound localization. This depends on a developmental switch in AMPAR composition from slow-gating GluA1-dominant to fast-gating GluA4-dominant, but the mechanisms underlying this switch remain unknown. We hypothesize that patterned stimuli mimicking spontaneous/sound evoked activity in the early postnatal stage drives this gating switch. We examined activity-dependent changes in evoked and miniature excitatory postsynaptic currents (eEPSCs and mEPSCs) at the calyx of Held synapse by breaking through the postsynaptic membrane at different time points following 2 min of theta burst stimulation (TBS) to afferents in mouse brainstem slices. We found the decay time course of eEPSCs accelerated, but this change was not apparent until > 30 min after TBS. Histogram analyses of the decay time constants of mEPSCs for naive and tetanized synapses revealed two populations centered around τfast ≈ 0.4 and 0.8 ms, but the relative weight of the τ0.4 population over the τ0.8 population increased significantly only in tetanized synapses. Such changes are blocked by NMDAR or mGluR1/5 antagonists or inhibitors of CaMKII, PKC and protein synthesis, and more importantly precluded in GluA4-/- synapses, suggesting GluA4 is the substrate underlying the acceleration. Our results demonstrate a novel form of plasticity working through NMDAR and mGluR activation to trigger a gating switch of AMPARs with a temporally delayed onset of expression, ultimately enhancing the development of high-fidelity synaptic transmission.


Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Potenciais Pós-Sinápticos Excitadores/fisiologia , Potenciais Pós-Sinápticos em Miniatura/fisiologia , Plasticidade Neuronal/fisiologia , Receptores de Glutamato Metabotrópico/fisiologia , Receptores de N-Metil-D-Aspartato/fisiologia , Sinapses/metabolismo , Corpo Trapezoide/fisiologia , Animais , Sinalização do Cálcio , Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/metabolismo , Camundongos , Proteínas do Tecido Nervoso/biossíntese , Proteína Quinase C/metabolismo , Receptores de AMPA/biossíntese , Receptores de AMPA/deficiência , Receptores de AMPA/genética , Receptores de Glutamato Metabotrópico/efeitos dos fármacos , Receptores de N-Metil-D-Aspartato/efeitos dos fármacos , Transmissão Sináptica/fisiologia , Tetania/fisiopatologia , Ritmo Teta , Fatores de Tempo , Corpo Trapezoide/ultraestrutura
7.
PLoS One ; 14(10): e0223868, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31603922

RESUMO

Hypomagnesaemic tetany (HypoMgT) in ruminants is a physiological disorder caused by inadequate intake or impaired absorption of magnesium (Mg) in the gut. If it is not detected and treated in time, HypoMgT can cause the death of the affected animal. A semi-structured questionnaire survey was conducted from July 2016-2017 to assess farmers' awareness of HypoMgT in cattle and sheep in the UK. The questionnaire was distributed to farmers at farm business events and agricultural shows, and through a collaborative group of independent veterinary practices to their clients. Farmers were asked about (i) the incidence of presumed HypoMgT (PHT); (ii) their strategies to treat or prevent HypoMgT; (iii) mineral tests on animals, forage and soil, and (iv) farm enterprise type. A total of 285 responses were received from 82 cattle, 157 mixed cattle and sheep, and 46 sheep farmers, of whom 39% reported HypoMgT in their livestock, affecting 1-30 animals. Treatment and/or prevention against HypoMgT was reported by 96% respondents with PHT and 79% of those without. Mineral tests on animal, forage, and soil was conducted by 24%, 53%, and 66% of the respondents, respectively, regardless of PHT. There was a highly significant association between the use of interventions to tackle HypoMgT and the incidence of PHT (p < 0.01). The top three treatment/prevention strategies used were reported as being free access supplementation (149), in feed supplementation (59) and direct to animal treatments (drenches, boluses and injections) (45) although these did vary by farm type. Although some (9) reported using Mg-lime, no other pasture management interventions were reported (e.g., Mg-fertilisation or sward composition). Generally, the results indicate that UK farmers are aware of the risks of HypoMgT. A more integrated soil-forage-animal assessment may improve the effectiveness of tackling HypoMgT and help highlight the root causes of the problem.


Assuntos
Doenças dos Bovinos/epidemiologia , Fazendeiros/psicologia , Deficiência de Magnésio/veterinária , Doenças dos Ovinos/epidemiologia , Tetania/veterinária , Animais , Bovinos , Doenças dos Bovinos/terapia , Indústria de Laticínios , Fazendas , Conhecimentos, Atitudes e Prática em Saúde , Incidência , Deficiência de Magnésio/complicações , Deficiência de Magnésio/epidemiologia , Deficiência de Magnésio/terapia , Ovinos , Doenças dos Ovinos/terapia , Inquéritos e Questionários , Tetania/induzido quimicamente , Tetania/epidemiologia , Tetania/terapia , Reino Unido/epidemiologia
8.
J Assoc Physicians India ; 67(8): 79-82, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31562727

RESUMO

Gross electrolytes disturbances including hypokalemia, hypomagnesaemia, and hypocalcaemia have been reported in tuberculosis patients who have been treated with capreomycin.1-3 Capreomycin is recommended in the treatment of M. tuberculosis isolates resistant to kanamycin at baseline in multi drug resistant tuberculosis patients (MDR - TB) and treatment of extensively drug resistant tuberculosis (XDR-TB) under programmatic management of drug resistant tuberculosis (PMDT) in India.4 We report a case of tetany in a extensively drug resistant tuberculosis (XDR-TB) patient treated with capreomycin. She developed hypokalemia after 7 weeks of administration of injection capreomycin intramuscularly daily in dose of 750 mg. Hypokalemia was refractory to intravenous potassium replacement therapy. At 12 weeks during the treatment she developed tetany and hypocalcaemia. Hypomagnesaemia was also associated with hypocalcaemia and hypokalemia. Normal level of serum potassium and calcium were achieved with correction of hypomagnesaemia.


Assuntos
Antibióticos Antituberculose/uso terapêutico , Capreomicina/uso terapêutico , Tuberculose Extensivamente Resistente a Medicamentos , Mycobacterium tuberculosis , Tetania/diagnóstico , Tuberculose Resistente a Múltiplos Medicamentos , Antituberculosos , Feminino , Humanos , Índia , Testes de Sensibilidade Microbiana
9.
Ecohealth ; 16(3): 476-487, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31410720

RESUMO

Monkeypox is a viral disease with a clinical presentation resembling that of smallpox. Although monkeypox is considered to be an important zoonotic viral disease, its epidemiology remains poorly understood, especially the spatial and temporal distribution of the disease. The present study examined weekly reports of monkeypox cases collected from 2000 to 2015 at the health zone scale in the Democratic Republic of Congo. SaTScan® was performed to identify spatial and temporal clusters of monkeypox cases. Significant primary spatial clusters were detected in the districts of Sankuru and Tshuapa. A centrifugal pattern was found, with significant primary spatial clusters extending over time from Sankuru and Tshuapa to several neighboring districts. Peaks of cases occurred from July to September for the 2000-2002 and 2003-2009 sub-periods and from January to March for the 2010-2015 sub-period. Despite the lack of additional data for confirmation, the increasing of monkeypox reported incidence was observed in the Democratic Republic of Congo during 2000-2015 period and this increase cannot be explain only by the improvements of surveillance systems. The detected spatial clusters were located in the dense rainforest of the Congo basin. The reasons for the excess incidence of monkeypox cases in the central region of the country are unknown, and the relative influence of ecological, environmental, and human factors on the mechanism of emergence of monkeypox has yet to be identified.


Assuntos
Monkeypox/epidemiologia , Animais , República Democrática do Congo/epidemiologia , Humanos , Incidência , Paraplegia/epidemiologia , Estações do Ano , Análise Espaço-Temporal , Tetania/epidemiologia , Zoonoses
10.
J Pediatr ; 211: 98-104.e4, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30954245

RESUMO

OBJECTIVES: To determine the incidence of potentially life-threatening complications of hypocalcemia in infants and children in Olmsted County, Minnesota; and to determine if vitamin D deficiency contributed to these events and was, at the time of clinical presentation, considered as a possible cause. STUDY DESIGN: In this population-based descriptive study, data were abstracted from the Rochester Epidemiology Project, a medical record linkage system covering 95% of patients in Olmsted County, Minnesota. Participants were children aged 0-5 years who resided in Olmsted County between January 1, 1996 and June 30, 2017, and who received diagnoses of seizures, cardiomyopathy, cardiac arrest, respiratory arrest, laryngospasm, and/or tetany. The incidence of hypocalcemia plus a potentially life-threatening complication was calculated. RESULTS: Among 15 419 patients aged 0-5 years in Olmsted County during the study period, 1305 had eligible complications: 460 had serum calcium checked within 14 days of presentation and 85 had hypocalcemia. Patients were excluded when causes other than hypocalcemia likely triggered the complication, leaving 16 children whose complication was attributed to hypocalcemia. Three of these 16 patients had a serum 25-hydroxyvitamin D measurement and 2 were deficient (≤6 ng/mL [15 nmol/L]). Among children aged 0-5 years, the incidence of hypocalcemia plus a potentially life-threatening complication was 6.1 per 100 000 person-years (95% CI, 3.5-10.0). CONCLUSIONS: Vitamin D deficiency is an underinvestigated cause of complications of hypocalcemia in children. Serum calcium and 25-hydroxyvitamin D should be measured in children with these complications to identify possibly life-threatening vitamin D deficiency.


Assuntos
Hipocalcemia/complicações , Deficiência de Vitamina D/complicações , Cálcio/sangue , Cardiomiopatias/complicações , Cardiomiopatias/epidemiologia , Pré-Escolar , Coleta de Dados , Registros Eletrônicos de Saúde , Feminino , Parada Cardíaca/complicações , Parada Cardíaca/epidemiologia , Humanos , Hipocalcemia/epidemiologia , Incidência , Lactente , Recém-Nascido , Laringismo/complicações , Laringismo/epidemiologia , Masculino , Minnesota , Insuficiência Respiratória/complicações , Insuficiência Respiratória/epidemiologia , Convulsões/complicações , Convulsões/epidemiologia , Tetania/complicações , Tetania/epidemiologia , Vitamina D/análogos & derivados , Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia
11.
Rev Fac Cien Med Univ Nac Cordoba ; 76(1): 56-58, 2019 02 27.
Artigo em Espanhol | MEDLINE | ID: mdl-30882343

RESUMO

Introduction: celiac disease is an autoimmune disease with symptoms involving multiple organs. The forms of presentation vary considerably, which makes it difficult to diagnose. The objective is to present an atypical case of celiac disease. Methodology: descriptive, retrospective, cross-sectional study of a case of an adult woman who presented with tetany Results: investigating the case, the diagnosis of tetany was reached secondary to an intestinal malabsorption Conclusion: celiac disease can occur atypically as a tetany


Assuntos
Doença Celíaca/complicações , Tetania/etiologia , Adulto , Doença Celíaca/diagnóstico , Doença Celíaca/patologia , Estudos Transversais , Feminino , Humanos , Mucosa Intestinal/patologia , Intestino Delgado/patologia , Estudos Retrospectivos , Tetania/diagnóstico , Tetania/patologia
12.
Nurs Crit Care ; 24(6): 349-354, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-28677878

RESUMO

Presentations to the emergency department with a diagnosis of hypocalcaemia-induced tetany secondary to total thyroidectomy are rare. A patient presented to the emergency department of a regional Australian hospital with hypocalcaemia-induced tetany. A case study was employed to reflect on the care provided and identify knowledge practice deficits within this unusual patient presentation. Calcium plays a central role within the nervous system and is vital for both cardiac and muscular contraction. The clinical manifestations of electrolyte disturbances such as hypocalcaemia can be life threatening, and therefore, appropriate assessment, monitoring and management are essential to ensure positive patient outcomes. Understanding the importance of calcium imbalance for the emergency and critical care nurse is paramount in preventing complications associated with cardiac conduction and muscle tone, especially the potential for airway compromise. Education is central to this and may include clinical case reviews, the application of pathophysiological presentations of electrolyte imbalance and a review of electrolyte administration guidelines. Understanding the role of calcium within the body will assist emergency and critical care nurses to assess, monitor and intervene appropriately, thereby preventing the life-threatening manifestations of hypocalcaemia.


Assuntos
Cálcio/sangue , Enfermagem de Cuidados Críticos , Complicações Pós-Operatórias , Tetania/diagnóstico , Tireoidectomia , Administração Intravenosa , Austrália , Gluconato de Cálcio/administração & dosagem , Serviço Hospitalar de Emergência , Feminino , Humanos , Pessoa de Meia-Idade
13.
Reumatismo ; 70(4): 251-256, 2018 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-30570243

RESUMO

This paper is aimed at investigating whether peripheral dysfunction at the neuromuscular level may represent a pain generator in fibromyalgia. We studied the prevalence of spasmophilia (SP), carpal tunnel syndrome (CTS) and ulnar neuropathy at the elbow (UNE) in a group of 40 subjects suffering from fibromyalgia. Clinical and electrophysiological data were obtained to ascertain whether comorbid conditions were present. For subjective evaluation of symptoms severity, validated questionnaires for CTS and UNE were completed by patients. Twenty subjects were positive for SP (50%); CTS was diagnosed in 12 subjects (30%); no patient suffered from UNE; 6 subjects were affected at the same time by SP and CTS (15%); 14 subjects (35%) were affected by SP alone. The prevalence of CTS and SP was higher in fibromyalgia subjects than in the general population. The scores of the questionnaires related to CTS were significantly higher in fibromyalgia subjects positive for CTS, with respect to the other subjects. In fibromyalgia, CTS and SP may be considered clinical entities in themselves, the importance of which lies in their acting as peripheral pain generators that enhance or initiate central sensitization, thereby contributing to chronic widespread pain. The amplification of pain is indeed a correctable/misguided message that occurs inside the brain of fibromyalgia subjects and identification and local treatment of pain generators would lessen the total pain burden. The magnitude of the overlap in symptoms between fibromyalgia and CTS/SP necessitates careful investigation of these conditions.


Assuntos
Síndrome do Túnel Carpal/complicações , Fibromialgia/complicações , Dor/etiologia , Tetania/complicações , Neuropatias Ulnares/complicações , Síndrome do Túnel Carpal/epidemiologia , Comorbidade , Cotovelo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Neuropatias Ulnares/epidemiologia
14.
BMC Res Notes ; 11(1): 588, 2018 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-30107822

RESUMO

BACKGROUND: Primary hypoparathyroidism is associated with diverse variety of symptomatology of hypocalcemia including seizures and tetany. We report a case of previously undiagnosed asymptomatic primary hypoparathyroidism with extensive basal ganglia calcifications presenting for the first time with hypocalcemic tetany during acute dengue infection. Although hypocalcemia is known to occur in dengue infection symptomatic hypocalcemia is very infrequent. CASE PRESENTATION: A 32 year old male with short stature who has undergone bilateral cataract surgery 2 years ago but who was otherwise healthy, presented with fever and generalized body aches of 3 days duration and carpal spasms/tetany occurring on the third day of the illness. He was diagnosed to have acute dengue fever along with severe hypocalcemia. Subsequent workup confirmed that the patient had primary hypoparathyroidism with extensive basal ganglia and cerebellar calcifications which was previously undiagnosed. His acute illness and hypocalcemia was managed successfully and was commenced on regular calcium supplementations to alleviate the hypocalcemic effects of his chronic illness. CONCLUSION: Clinical features of hypocalcemia may not commonly manifest up to the same degree of severity of hypocalcemia in primary hypoparathyroidism even till late adulthood but potential early clues such as short stature and premature cataract should be actively investigated. Worsening of already existing hypocalcemia during acute dengue fever led to the ultimate diagnosis of primary hypoparathyroidism in this patient which was lifesaving.


Assuntos
Dengue/complicações , Hipoparatireoidismo/complicações , Tetania/complicações , Adulto , Humanos , Hipocalcemia , Masculino , Sri Lanka
15.
Nephron ; 139(4): 359-366, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29791908

RESUMO

Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum magnesium (Mg2+) levels in these patients. In the present study, we describe a new de novo KCNA1 mutation in a Polish patient with tetany and hypomagnesemia. Electrophysiological and biochemical analyses were performed to determine the pathogenicity of the mutation. A female patient presented with low serum Mg2+ levels, renal Mg2+ wasting, muscle cramps, and tetanic episodes. Whole exome sequencing identified a p.Leu328Val mutation in KCNA1 encoding the Kv1.1 K+ channel. Electrophysiological examinations demonstrated that the p.Leu328Val mutation caused a dominant-negative loss of function of the encoded Kv1.1 channel. Cell surface biotinylation showed normal plasma membrane expression. Taken together, this is the second report linking KCNA1 with hypomagnesemia, thereby emphasizing the need for further evaluation of the clinical phenotypes observed in patients carrying KCNA1 mutations.


Assuntos
Canal de Potássio Kv1.1/genética , Deficiência de Magnésio/genética , Tetania/genética , Biotinilação , Pré-Escolar , DNA/genética , Fenômenos Eletrofisiológicos/genética , Exoma , Feminino , Células HEK293 , Humanos , Magnésio/sangue , Deficiência de Magnésio/sangue , Cãibra Muscular/genética , Mutação/genética , Técnicas de Patch-Clamp , Linhagem , Análise de Sequência de DNA
16.
Paediatr Int Child Health ; 38(4): 281-284, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-28648114

RESUMO

Pseudohypoparathyroidism (PHP) is a rare group of disorders characterised by end-organ resistance to the parathyroid hormone (PTH). A 16-year-old boy presented with a 2-year history of involuntary dystonic movements involving mainly the left hand, initially after writing and later during physical exercise. Serum calcium was 1.37 mmol/L (2.20-2.69), phosphate 2.1 mmol/L (0.8-1.45) and PTH 302 ng/L (12-88). CT scan of the head demonstrated multiple subcortical and diffuse basal ganglia calcifications. Genetic analysis confirmed a methylation defect in the GNAS cluster on chromosome 20q13.32 which established the diagnosis. Treatment with calcitriol and calcium carbonate led to complete remission of symptoms. Causes of hypocalcaemia should be considered in evaluating patients with movement disorders. The diagnosis of PHP-1B is challenging but the overall prognosis is excellent.


Assuntos
Pseudo-Hipoparatireoidismo/diagnóstico , Pseudo-Hipoparatireoidismo/patologia , Tetania/etiologia , Tetania/patologia , Adolescente , Análise Química do Sangue , Encéfalo/diagnóstico por imagem , Cromossomos Humanos Par 20 , Deleção de Genes , Humanos , Masculino , Pseudo-Hipoparatireoidismo/genética , Tomografia Computadorizada por Raios X
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