Background: Allgrove syndrome (triple A syndrome) is a rare autosomal recessive multisystem disease characterized by adrenal insufficiency, alacrimia and achalasia. It is caused by a mutation in the AAAS gene (12q13) encoding the protein ALADIN (1). This syndrome is often associated with neurological dysfunction disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrome. Prevalence:<1/1000000. The first description was in 1978. Clinical case: A 18-year patient A. complained of fatigue, weakness, darkening of the skin. From anamnesis of life: born from the first pregnancy without complications, weight 3200g. Parents often turned to the pediatrician with complaints: lethargy, frequent regurgitation, ARVI up to 6–7 times a year. Slow weight gain, dyspeptic syndrome (nausea, vomiting) was noted objectively. At the age of 3, the boy entered the surgical department with acute abdomen, fever, vomiting. Achalasia was revealed, reconstructive surgery was carried out. In the diagnostic search for the causes of body weight loss he was directed to the endocrinologist. There were an increase in ACTH 470 pg/ml (0,0-46 pg/ml), cortisol 0.05 µg/DL. Diagnosis: primary chronic adrenal insufficiency; the dose of hydrocortisone 10 mg/day did not change with age. An in-depth anamnesis found: the patient never cried with tears. Objectively: asthenic body type, BMI 16.5 kg/m2, hyperpigmentation of the palms, armpits; weakness in the proximal muscles of the limbs. Laboratory studies: ACTH 95 PG/ml, cortisol 0.1 µg/DL (3.7–19.4 µg/DL). The secretion of mineralocorticoids was evaluated: plasma aldosterone and renin levels were within the reference values. Ophthalmologist: injected conjunctiva, sclera. Schirmer’s test: mild alacrimia. It allowed to make the diagnosis: “Primary chronic adrenal insufficiency. Condition after surgery for achalasia (1997). Alacrimia. Allgrove Syndrome.” The dose of hydrocortisone was increased to 17.5 mg/day. In 2019, the patient complained of a sharp deterioration of health, darkening of the skin. The dose of hydrocortisone was increased to 25 mg/day (15 mg at 8.00, 10 mg in the afternoon). The ophthalmologist noted an increase in the severity of alacrimia, artificial tear drops was recommended. The diagnosis was confirmed by pathogenic mutation c.43C>T of the AAAS gene. Discussion: Despite the full clinical picture, the right diagnosis was made only after 14 years. We shown the difficulty of diagnosis is due to the lack of awareness of clinicians about the disease, the importance of interdisciplinary interaction, as well as the need for follow-up of such patients. Reference: (1) Handschug K, Sperling S, Yoon SJ, et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Human Molecular Genetics. 2001;10:283–290.
Современный образ жизни способствует формированию различных факторов риска сердечно-сосудистых катастроф. Среди них выделяют хорошо изученные, такие как изобильное питание, низкую физическую активность и высокий уровень психоэмоционального напряжения. В то же время продолжается интенсивный поиск новых причин, связанных с условиями жизни, способных привести в итоге к развитию сердечно-сосудистых заболеваний. В течение последнего десятилетия рабочую деятельность в вечернее и ночное время стали рассматривать как фактор риска развития артериальной гипертензии (АГ), метабо-лических нарушений и, следовательно, сердечно-сосудистых катастроф [1].Исследование этой проблемы начал Lund J. и соавт. в 2000 г. Они изучали метаболические реакции организма сотрудников английской антарктической станции в ответ на изменения циркадных ритмов при работе по графику день-ночь. Изолированность станции позволила всем испытуемым придерживаться стандартного пищевого режима. Результаты исследования дали возможность прийти к заключению, что уровни постпрандиальной глюкозы, инсулина и триглицеридов достоверно увеличиваются при работе в ночные смены по сравнению с обычным дневным графиком. После работы в ночную смену требовалось два дня для нормализации углеводного обмена, а уровень триглицеридов оставался достоверно высоким довольно длительное время. Следовательно, английскими учеными были получены доказательства того, что нарушение циркадных ритмов во время работы в ночную смену является одной из ранних и до сих пор неизученных причин раз-Сведения об авторах: Джериева Ирина Саркисовна -к.м.н., ассистент кафедры внутренних болезней №3, Ростовский ГМУ Волкова Наталья Ивановна -д.м.н., профессор, заведующая той же кафедрой Рапопорт Семен Исаакович -д.м.н., профессор, заведующий лабораторией хрономедицины и новых технологий в клинике внутренних болезней, Первый МГМУ им. И.М. Сеченова 1 Ростовский государственный медицинский университет 344022, Ростов-на-Дону, пер. Нахичеванский, д.29 2 Первый Московский Государственный Медицинский Университет им. Сеченова 119991, Москва, ул. Трубецкая, д.8, стр.2 Сменная работа как один из факторов риска развития артериальной гипертензии и метаболических нарушений И.С. Джериева 1 *, Н.И. Волкова 1 , С.И. Рапопорт 2 1 Ростовский государственный медицинский университет. 344022, Ростов-на-Дону, пер. Нахичеванский, д.29 2 Первый Московский Государственный Медицинский Университет им. Сеченова. 119991, Москва, ул. Трубецкая, д.8, стр.2 Актуальность. Сменную работу рассматривают в качестве фактора риска развития артериальной гипертензии (АГ) и метаболических нарушений. Цель. Изучить влияние различных видов трудового графика на формирование АГ и основных метаболических нарушений, имеющих клиническое значение. Материалы и методы. В исследование были включены 1091 мужчина, которых разделили на подгруппы согласно возрасту (20-29 лет, 30-39 лет, 40-49 лет, 50-59 лет) и графику трудовой деятельности (стандартный и сменный графики работы). Выявляли АГ (артериальное давление >130/85 мм рт.ст.), абдоминальное ожирение (окружно...
At online scientific expert meeting of the South region held on October 3, 2020, the results of the international multicenter study EMPEROR-Reduced were discussed. Number of proposals and recommendations were adopted for the further study of the cardiovascular and renal effects of empagliflozin, its use in clinical practice in patients with chronic heart failure.
Introduction: Glucocorticoid-induced myopathy is the sign of Cushing’s syndrome in 83%, but can also be consequence of exogenous administration of glucocorticoids. The patients with the compromised neuromuscular system (for example, because of myasthenia gravis) have a higher risk of this complication. Differential diagnosis of glucocorticoid-induced myopathy is challenging. Clinical case. A 77-year woman complained of difficulty in the act of breathing, swallowing, weakness in the limbs, inability to self-service, ptosis. Due to the growing complaints the patient was hospitalized to ICU. From anamnesis: She was diagnosed with myasthenia gravis 2 months ago. The presence of autoantibodies to the nicotine acetylcholine receptor was confirmed. Pyridostigmine bromide 60 mg/day, Methylprednisolone 20 mg/day were prescribed for 5 days. The patient noted some improvement. After the next neurologist’s examination the dose of Methylprednisolone was doubled. (It is not known for certain whether the doctor wanted to reduce the dose and the patient misunderstood.) She noted some worsening: weakness and speech difficulties increased. She returned to the previous dose after 3 days, but there was no improvement. Objectively: hypersthenic body type, BMI 39 kg/m2, predominant deposition of adipose tissue in the abdomen and face. Breathing without a ventilator. BP 250/100 mm Hg, heart rate 87 BPM. Laboratory tests revealed hyperkalemia of 8.76 mmol/l (3.5–5), creatinine of 481 mmol/l (44–124), hyperglycemia of 16 mmol/l. Glucocorticoid-induced myopathy was suspected, the administration of methylprednisolone was cancelled. The improvement of the condition was noted in 3 days. Blood pressure, glycaemia, levels of potassium and creatinine returned to normal. A biopsy of muscle revealed: atrophy of type I and II muscle fibers. There were no signs of necrosis, regeneration or inflammation. Thereby the diagnosis of glucocorticoid-induced myopathy was confirmed. Conclusion. Glucocorticoid-induced myopathy may look like a decompensation of neuromuscular disease. Since there are no accurate diagnostic tests nowadays the main argument of diagnosis is the paradoxical reaction after increasing the dose of glucocorticoids as well in this case. Even a short period of use of these drugs can lead to the development of side effects. It is necessary to regularly monitor the dynamics of the condition of such patients.
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