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Etiopathogenesis
Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
Dario Didona, Biagio Didona, Giovanni Paolino, Raffaele Dante Caposiena Caro
The catecholamine metabolite levels have been studied by Morrone et al., showing that homovanillic acid and vanilmandelic acid were higher in vitiligo patients. Furthermore, it was shown that these catecholamines were related to the activity of the disease since they led to vasoconstriction, hypoxia, and overproduction of oxygen radicals that destroy melanocytes [42]. Morrone et al. postulated that the level of circulating catecholamines and urinary metabolites grew also because of the stress due to the disease spreading [42]. As a result, the increased levels of catecholamines at skin autonomic nerves led to cytotoxic damage of melanocytes, either directly or indirectly through their metabolites [42].
Psychological Effects of Exercise for Disease Resistance and Health Promotion
Published in Ronald R. Watson, Marianne Eisinger, Exercise and Disease, 2020
Studies of acute activity and MHPG in nondepressed subjects have typically quantified the exercise and some have relativized exercise intensity to work capacity. However, again the findings are mixed. Plasma MHPG typically has increased, but urinary MHPG has been unchanged. Other studies have found increases in glucuronide and sulfated subfractions of MHPG.39,40 However, the continued debate over the central or peripheral origins of plasma and urinary MHPG and their meaning for NE metabolism in the brain hinder interpretations of the exercise studies for models of depression.41 To determine the origin of the MHPG following exercise, a recent study42 used ethanol to block the metabolism of MHPG to vanilmandelic acid in the liver. The findings were consistent with a central origin for MHPG sulfate, and showed similar excretion rates for MHPG subfractions in depressed patients and normal controls following high intensity exercise.
Clinical presentation and diagnostic evaluation of pheochromocytoma: case series and literature review
Published in Clinical and Experimental Hypertension, 2023
Panagiota Anyfanti, Κonstantinos Mastrogiannis, Αntonios Lazaridis, Κonstantinos Tasios, Despoina Vasilakou, Αnastasia Kyriazidou, Fotios Aroutsidis, Olga Pavlidou, Εleni Papoutsopoulou, Athina Tiritidou, Vasileios Kotsis, Αreti Triantafyllou, Ιoannis Zarifis, Stella Douma, Εugenia Gkaliagkousi
1st case: A 33-year-old female attended the emergency department of our hospital due to multiple episodes of vomiting accompanied by diffuse abdominal pain, initiating around 48 hours ago. Medical history was remarkable for MEN 2A, for which the patient underwent total thyroidectomy 20 years ago. In her family history, her mother was diagnosed with thyroid myeloid cancer and pheochromocytoma in the context of MEN 2A syndrome and had died after an adrenal crisis. An abdominal computerized tomography (CT) scan was performed, which revealed bilateral large soft tissue lesions at the anatomic location of the two adrenal glands (left: 10 x 6.6 x 7.6 cm, right: 10 × 6 x 6 cm), which resembled hematomas with concomitant turbidity of the surrounding fat, as in acute bilateral adrenal gland hemorrhage. To investigate potential causes of adrenal hemorrhage, blood and urine cultures were obtained to rule out septic infection and testing for antiphospholipid syndrome was performed, with negative results. Acute adrenal insufficiency was ruled out with adrenal cortex stimulation test with corticosteroid hormone analogue (synacthen test). Biochemical testing for pheochromocytoma was performed that showed increased levels of urine metanephrines and vanilmandelic acid (VMA) in 24-hour urine collection (urine metanephrines 1,93 μg/24 h, normal value <0,83; VMA 42 mg/24 h, normal value: 1–11 mg/24 h). An abdominal MRI was further performed, which diagnosed hemorrhaging pheochromocytomas on both sides (Figure 1A). The patient underwent further investigation with Iodine-123 meta-iodobenzylguanidine Single-Photon Emission Tomography/CT (123Ι-ΜΙBG SPECT/CT), which confirmed the presence of bilateral pheochromocytomas without active hemorrhage or extra-adrenal localization (Figure 1B).
Metastatic malignant pheochromocytomas mimicking pelvic leiomyosarcomas: a case report
Published in Journal of Obstetrics and Gynaecology, 2021
Jin Woo Yoon, Sung Bin Park, Hyun-Jin Choi, Mi Kyung Kim, Eun Sun Lee, Hyun Jeong Park
A 36-year-old woman was referred to our hospital for further evaluation of both adnexal masses detected during ultrasonography (US) and vague abdominal discomfort for several months. Other past medical or family history was unremarkable. She had regular menstrual cycles and had no history of vaginal bleeding. Her laboratory test results showed that she had a complete blood count, electrolyte levels, liver function, and that her serum tumour markers were normal. A physical examination revealed she had a normal uterus and cervix and no significant palpable mass. Pelvic magnetic resonance imaging (MRI) and abdomen and pelvic computed tomography (CT) revealed a 4.7-cm-sized heterogeneous mass abutting to the right uterine corpus and a 9.0-cm-sized mass attached to the posterior lower uterine segment with the same nature (Figure 1). Additionally, an approximate 15.4×16.8-cm-sized heterogeneous mass with internal necrosis was observed in the right suprarenal area. These masses showed diffusion restriction. Several hepatic nodules were also noted (Figure 1). Further laboratory test results for adrenal hormone levels, including 24-hour urinary catecholamine (normetanephrine, metanephrine and vanilmandelic acid), plasma aldosterone, renin activity, and her 1 mg overnight dexamethasone suppression test was normal. The US-guided biopsy of pelvic masses and the right suprarenal mass was performed. The microscopic findings of the suprarenal lesion showed she had well-defined tumour cell nests containing eosinophilic cytoplasm with a vascular septum in the adrenal gland. Immunohistochemical staining of the suprarenal mass revealed tumour cells to be positive for synaptophysin and chromogranin, indicating adrenal pheochromocytoma. The pelvic mass was identical to the right suprarenal mass on pathology. Thus, she was diagnosed with right adrenal malignant pheochromocytoma with metastases to the pelvis and liver. In consequence, she underwent right adrenalectomy, total hysterectomy with bilateral oophorectomy, right posterior sectionectomy of liver and IVC replacement, without undergoing any systemic chemotherapy or radiopharmaceutical therapy. The masses were pathologically confirmed as malignant pheochromocytoma and multiple metastatic masses with the involvement of myometrium and liver. She is alive without evidence of recurrence after six months of follow-up.
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing
Published in Fetal and Pediatric Pathology, 2020
Naz Guleray, Can Kosukcu, Zihni Ekim Taskiran, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, Safak Gucer, Aysegul Tokatli, Koray Boduroglu, Mehmet Alikasifoglu
The patient was born from a 26-year-old mother at full term by cesarean section with a birth weight of 2,600g after an uneventful pregnancy. The parents were healthy first-degree cousins of Turkish origin. Their first child was referred with hypotonia, vomiting and failure to thrive and she passed away at the age of 5months with the findings suggestive of a metabolic disorder, however, no definitive diagnosis could be established. The present patient was referred at the age of 3months with similar findings. She had hypotonia, persistent vomiting and failure to thrive. Similar to her sister no diagnosis could be established. During the follow-up, when she was 7months old, she was admitted to intensive care unit (ICU) because of massive diarrhea and metabolic instability. On physical examination, her vital findings were as follows; body temperature 35,5 °C, pulse 174/min, respiration rate 35/min under mechanical ventilation and blood pressure 110/70mmHg. Anthropometric measurements revealed a body weight of 5600g (-2.52 SD), body length 70cm (+1.25 SDS) and head circumference 40cm (-2.42 SD). Systolic murmur was heard at pulmonary area and liver was palpable 2cm below the costal margin. Severe hypotonia was noted. She neither had head control nor could sit with support. Laboratory tests revealed leukocytosis, low albumin levels, elevated transaminases, metabolic acidosis, myoglobinemia and elevated levels of creatine kinase and lactate. Sequential urine organic acid profile revealed high levels of various organic acids including fumaric acid, adipic acid, 4-OH phenylpyruvic acid, 3-methyl glucatonic acid, 3-OH sebacic acid, suberic acid, homovalinic acid, vanilmandelic acid, lactic acid, pyruvic acid, 3-OH butyric acid, succinic acid, 3- methy glutaconic, 3-OH-3-methyl glutaric acid and 3-OH glutaric acid. Metabolic tests were all normal between the attacks. Echocardiography revealed secundum atrial septal defect. Renal ultrasound was normal. Incisional muscle biopsy with a suspicion of neuromuscular disorder demonstrated a slight variation in muscle fiber caliber and some of the muscle fibers were negative for cytochrome c oxidase staining. During her stay in ICU, she received supportive therapy including inotropic agents and supplementation with coenzyme Q10, carnitine, multi-vitamin B and biotin. Despite supportive treatment, the patient died at the age of 9months without a definitive diagnosis. The family gave full consent for an autopsy and genetic tests. Autopsy revealed cardiomegaly, left ventricular hypertrophy, cardiomyopathy and hepatomegaly. In addition, although myocardium was normal with respect to oxidative staining, decreased cytochrome c oxidase staining was evident in myocytes of skeletal muscles and also in hepatocytes (Figure 1). Histo-chemical analysis of the muscle fibers revealed lipid deposition in some of the fibers along with some atrophic muscle fibers. No ragged red fibers were noted. Postmortem genetic testing by WES was planned.