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1.
Sci Rep ; 13(1): 6032, 2023 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-37055514

RESUMO

To examine an impact of three types of bariatric surgery compared with dietary intervention (DIET), on concurrent changes in Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) and appetite hormones over 3 years. Fifty-five adults were studied during phase of weight loss (0-12 months) and during weight stability (12-36 months) post intervention. Measurements of HOMA-IR, fasting and postprandial PYY and GLP1, adiponectin, CRP, RBP4, FGF21 hormones and dual-Xray absorptiometry were performed throughout the study. All surgical groups achieved significant reductions in HOMA-IR with greatest difference between Roux-en-Y gastric bypass and DIET (- 3.7; 95% CI - 5.4, - 2.1; p = 0.001) at 12-36 months. Initial (0-12 months) HOMA-IR values were no different to DIET after adjustment for the lost weight. During 12-36 months, after controlling for treatment procedure and weight, for every twofold increase in postprandial PYY and adiponectin, HOMA-IR decreased by 0.91 (95% CI - 1.71, - 0.11; p = 0.030) and by 0.59 (95% CI - 1.10, - 0.10; p = 0.023) respectively. Initial, non-sustained changes in RBP4 and FGF21 were not associated with HOMA-IR values. While initial rapid weight loss reduces insulin resistance, the enhanced secretions of PYY and adiponectin may contribute to weight-independent improvements in HOMA-IR during weight stability.Clinical trial registration: Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12613000188730.


Assuntos
Cirurgia Bariátrica , Derivação Gástrica , Resistência à Insulina , Adulto , Humanos , Apetite , Adiponectina , Austrália , Insulina , Redução de Peso , Glicemia , Proteínas Plasmáticas de Ligação ao Retinol
2.
Front Endocrinol (Lausanne) ; 14: 1119134, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36793288

RESUMO

Background: The prevalence of gestational diabetes mellitus (GDM) has been increasing in Australia and worldwide. The study aims were to examine, in comparison with dietary intervention, perinatal outcomes for women with gestational diabetes who were attending a single hospital clinic and to identify predictors for their pharmacological GDM treatment. Methods: A prospective, observational study of women with GDM, treated with "Diet, N= 50", "Metformin, N = 35", "Metformin and Insulin, N = 46" or "Insulin, N = 20". Findings: The mean BMI for the whole cohort was 25.8 ± 4.7 kg/m2. The Metformin group, compared to the Diet group, had OR=3.1 (95% CI:1.13 to 8.25) for caesarean section birth (LSCS) compared to normal vaginal birth mode with no longer such a significant association after controlling for the number of their elective LSCS. The insulin treated group had the highest number of small for gestational age neonates (20%, p<0.05) with neonatal hypoglycaemia (25%, p< 0.05). Fasting glucose value on oral GTT (glucose tolerance test) was the strongest predictor for a pharmacological intervention requirement with OR = 2.77 (95CI%: 1.16 to 6.61), followed by timing of OGTT with OR=0.90 (95% CI: 0.83 to 0.97) and previous pregnancy loss with OR=0.28 (95% CI:0.10 to 0.74). Interpretation: These data suggest that metformin may be a safe alternative treatment to insulin treatment in GDM. Raised fasting glucose on oral GTT was the strongest indicator that GDM women with BMI < 35 kg/m2 may require pharmacological therapy. Further studies are needed to identify the most effective and safe management of gestational diabetes within the public hospital setting. Australian New Zealand Clinical Trial Registry ANZCTR Trial Id: ACTRN12620000397910.


Assuntos
Diabetes Gestacional , Metformina , Recém-Nascido , Gravidez , Feminino , Humanos , Diabetes Gestacional/tratamento farmacológico , Diabetes Gestacional/epidemiologia , Metformina/uso terapêutico , Hipoglicemiantes/uso terapêutico , Cesárea , Estudos Prospectivos , Austrália/epidemiologia , Insulina/uso terapêutico , Glucose/uso terapêutico
3.
Arch Med Sadowej Kryminol ; 73(2): 139-148, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38186040

RESUMO

Post-mortem computer tomography (PMCT) is an imaging technique that is gaining popularity both worldwide and in Poland. It provides certain benefits in death investigation that a conventional autopsy is not able to, however, it has significant limitations. As PMCT and post-mortem computed angiography (PMCTA) continue to develop in this country, it is critical to become aware what people know and think about these imaging techniques, especially the prosecutors who officially order such examinations to be performed. In 2019, two concurrent surveys were administered to Polish prosecutors and general Polish population, respectively, regarding their current knowledge and opinions on PMCT. The results were collected both online and on paper, and then subjected to analysis. In total, 92 prosecutors and 227 non-prosecutors responded to the survey. The present authors observed that while prosecutors were more likely to have heard of this examination than the general public, their knowledge was often inadequate or incorrect. Conventional autopsy was still held as the gold standard in death investigation. However, a good popular sentiment towards PMCT was shown, and a desire to learn more about it - not just among prosecutors, but among the general public as well. The present authors' recommendation is that more courses and training should be organised for Polish prosecutors to compensate this knowledge gap.


Assuntos
Exame Físico , Imageamento post mortem , Humanos , Polônia , Autopsia , Atitude
4.
Endocr Regul ; 55(3): 163-168, 2021 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-34523297

RESUMO

Objective. Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by chronic hypophosphatemia and osteomalacia. We present case of a patient with a protracted clinical course of TIO. TIO profoundly affected every aspect of his life with subsequent profound physical and psychosocial disabilities. Method. The review of a complex clinical presentation, serial laboratory investigations, and imaging modalities of a patient with TIO caused by a mesenchymal tumor. Results. The patient presented with chronic lower back pain, severe bilateral leg weakness, and multiple pathological fractures due to severe osteoporosis. His investigations revealed hypophosphatemia, low 1,25 dihydroxyvitamin D, phosphaturia and normal serum calcium, and parathyroid hormone. Elevated fibroblast growth factor 23 (FGF23) confirmed the diagnosis of TIO and 68Ga-DOTATATE-positron emission tomography/computed tomography (PET/CT) imaging correctly identified a tumor in the left femoral head. His clinical features and biochemical abnormalities promptly recovered after successful surgical resection of the mesenchymal tumor. Conclusion. The present case demonstrated the need to extensively investigate causes of generalized bone pain in patients with hypophosphatemia, as TIO is highly curable. Importantly, 68Ga-DOTATATE PET/CT imaging successfully identified the FGF23 producing tumor, which was undetectable by conventional imaging, favoring its early use in suspected TIO presentation. The present report highlights the importance of timely diagnosis of this complex medical condition, aiming to improve general awareness and enable better clinical outcomes for this rare disorder.


Assuntos
Neoplasias de Tecido Conjuntivo , Osteomalacia , Síndromes Paraneoplásicas , Depressão , Fator de Crescimento de Fibroblastos 23 , Humanos , Neoplasias de Tecido Conjuntivo/complicações , Neoplasias de Tecido Conjuntivo/diagnóstico por imagem , Osteomalacia/diagnóstico por imagem , Osteomalacia/etiologia , Dor , Síndromes Paraneoplásicas/etiologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tomografia por Emissão de Pósitrons , Cintilografia
5.
Case Rep Endocrinol ; 2021: 5525156, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34104497

RESUMO

Autoimmune hypothyroidism may result in a wide range of neuromuscular disorders. The frequently observed neurological manifestations of acquired hypothyroidism include mild to moderate myopathy and sensorimotor neuropathy, which usually resolve by clinical and electrophysiological criteria, in adults treated with thyroid hormone replacement. We report a case of a 30-year-old male with severe hypothyroidism secondary to chronic autoimmune thyroiditis who presented with a 2-year history of progressive fatigue, upper and lower limb weakness, myalgia, and intermittent paraesthesia. His neurological exam demonstrated proximal and distal muscle weakness, lower limb areflexia, and relatively intact sensory modalities. The patient's biochemistry revealed unusually and profoundly raised the thyroid stimulating hormone (TSH) level of 405.5 mIU/L (reference range (RR): 0.27-4.2 mIU/L) and creatine kinase (CK) level of 20,804 U/L (RR: 45-250 U/L), while his nerve conduction studies (NCS) demonstrated severe sensorimotor polyneuropathy with both axonal and demyelinating features. Thyroid hormone replacement therapy over the first 3 months resulted in biochemical normalization of his extremely deranged thyroid function tests (TFTs) and CK levels. At 12 months, despite maintaining euthyroidism and noticeable improvement in strength, his nerve conduction studies (NCS) demonstrated the continued absence of distal motor and sensory responses in his lower limbs with only partial improvement in sensory amplitudes and conduction velocities in his upper limbs. This report highlights the potential for severe neuromuscular consequences from advanced and chronic autoimmune hypothyroidism. The patient's myopathy has resolved over a period of three months with prompt normalization of CK levels. Concerningly, the patient achieved significant but incomplete recovery from his mixed axonal and demyelinating neuropathy with residual mild distal weakness and areflexia in his lower limbs and persistent motor and sensory impairments on his NCS. The severity and incomplete resolution of our patient's neurological manifestations emphasize the importance of early diagnosis and the need for prompt therapeutic intervention for hypothyroidism.

6.
Int J Obes (Lond) ; 45(1): 235-246, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32848203

RESUMO

OBJECTIVES: Little is known about the long-term skeletal impact of bariatric procedures, particularly the increasingly commonly performed gastric sleeve surgery (GS). We examined bone density (BMD) change following three types of bariatric surgery Roux-en-Y gastric bypass (RYGB), GS and laparoscopic adjustable gastric banding (LAGB), compared with diet, over 36 months. METHODS: Non-randomized, prospective study of participants with severe obesity (n = 52), undergoing weight-loss interventions: RYGB (n = 7), GS (n = 21), LAGB (n = 11) and diet (n = 13). Measurements of calciotropic indices, gut hormones (fasting and post prandial) peptide YY (PYY), glucagon-like peptide 1 (GLP1) and adiponectin together with dual-X-ray absorptiometry and quantitative computed tomography scans were performed thorough the study. RESULTS: All groups lost weight during the first 12 months. Despite weight stability from 12 to 36 months and supplementation of calcium and vitamin D, there was progressive bone loss at the total hip (TH) over 36 months in RYGB -14% (95% CI: -12, -17) and GS -9% (95% CI: -7, -10). In RYGB forearm BMD also declined over 36 months -9% (95% CI: -6, -12) and LS BMD declined over the first 12 months -7% (95% CI: -3, -12). RYGB and GS groups experienced significantly greater bone loss until 36 months than LAGB and diet groups, which experienced no significant BMD loss. These bone losses remained significant after adjustment for weight loss and age. RYGB and GS procedures resulted in elevated postprandial PYY, adiponectin and bone turnover markers up to 36 months without such changes among LAGB and diet participants. CONCLUSIONS: RYGB and GS but not LAGB resulted in ongoing TH bone loss for three postoperative years. For RYGB, bone loss was also observed at LS and non-weight-bearing forearms. These BMD changes were independent of weight and age differences. We, therefore, recommend close monitoring of bone health following RYGB and GS surgeries.


Assuntos
Densidade Óssea/fisiologia , Derivação Gástrica , Obesidade Mórbida/cirurgia , Redução de Peso/fisiologia , Adulto , Feminino , Derivação Gástrica/efeitos adversos , Derivação Gástrica/estatística & dados numéricos , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos
7.
Pathogens ; 9(8)2020 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-32806609

RESUMO

Autopsies of exhumed bodies pose a risk of infections with environmental bacteria or fungi, which may be life-threatening. Thus, it is important to use effective methods of disinfection in forensic pathology facilities. In this study, we investigated the effectiveness of no-touch automated disinfection (NTD) system after autopsies of exhumed bodies. Directly after 11 autopsies of exhumed bodies, we used an NTD system based on a peroxone vapor to disinfect the air and surfaces. We measured microbial burden in the air and on surfaces before and after NTD. The NTD system reduced the mean bacterial burden in the air from 171 colony forming units (CFU)/m3 to 3CFU/m3. The mean fungal burden in the air decreased from 221 CFU/m3 to 9CFU/m3. The mean all-surface microbial burden was 79 CFU/100 cm2 after all autopsies, and it decreased to 2 CFU/100 cm2 after NTD. In conclusion, the peroxone-based NTD system was effective for decontamination of the air and surfaces in a dissecting room after autopsies of exhumed bodies.

8.
Rev Endocr Metab Disord ; 20(3): 321-332, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31278514

RESUMO

Indigenous Australians are particularly affected by type 2 diabetes mellitus (T2D) due to both their genetic susceptibility and a range of environmental and lifestyle risk factors. Recent genetic studies link predisposition to some diseases, including T2D, to alleles acquired from archaic hominins, such as Neanderthals and Denisovans, which persist in the genomes of modern humans today. Indo-Pacific human populations, including Indigenous Australians, remain extremely underrepresented in genomic research with a paucity of data examining the impact of Denisovan or Neanderthal lineages on human phenotypes in Oceania. The few genetic studies undertaken emphasize the uniqueness and antiquity of Indigenous Australian genomes, with possibly the largest proportion of Denisovan ancestry of any population in the world. In this review, we focus on the potential contributions of ancient genes/pathways to modern human phenotypes, while also highlighting the evolutionary roles of genetic adaptation to dietary and environmental changes associated with an adopted Western lifestyle. We discuss the role of genetic and epigenetic factors in the pathogenesis of T2D in understudied Indigenous Australians, including the potential impact of archaic gene lineages on this disease. Finally, we propose that greater understanding of the underlying genetic predisposition may contribute to the clinical efficacy of diabetes management in Indigenous Australians. We suggest that improved identification of T2D risk variants in Oceania is needed. Such studies promise to clarify how genetic and phenotypic differences vary between populations and, crucially, provide novel targets for personalised medical therapies in currently marginalized groups.


Assuntos
Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/patologia , Austrália , Estudo de Associação Genômica Ampla , Humanos , Povos Indígenas , Obesidade/genética , Obesidade/patologia
9.
J Ultrason ; 19(77): 120-124, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31355583

RESUMO

Aim: The aim of the study was to determine the thickness of the tendinous and capsuloligamentous layers in the supraspinatus and infraspinatus zones of the shoulder. Materials and methods: Anatomical and ultrasonographic assessment of three fresh anatomical specimens consisting of the humeral head together with the capsuloligamentous layer called the superior complex and the supraspinatus and infraspinatus myotendinous units cut off at the level of the scapular glenoid rim. The first specimen was dissected on the length of approx. 10 mm from the glenoid insertion - the superior complex insertional zone to the scapula. Distally anterior (coraco-humeral and gleno-humeral superior ligaments) and posterior (gleno-humeral superior posterior ligament) limbs are connected by a transversely oriented ligament called the rotator cuff cable. This structure, together with the rest of the superior complex, belongs to the capsuloligamentous layer of the rotator cuff. The two other specimens were dissected (superior complex from the myotendinous units) from the level of the glenoid rim to the humeral insertion. Then the three specimens were scanned by ultrasound in a water bath and the measurements of both distinct layers were taken. Results: The rotator cuff in the supraspinatus and infraspinatus zone is a two-layer structure. The thickness of the tendinous and the capsuloligamentous layer is comparable. Conclusions: It may be concluded that the rotator cuff in the supraspinatus and infraspinatus zone is a two-layer structure, with the outer myotendinous layer, and the inner capsuloligamentous layer, which is called the superior complex. Since the thickness of these layers is comparable, it is important to bear in mind that the superior complex is an important part of shoulder biomechanics. Two different structures are found here - tendinous (dynamic) and capsuloligamentous (passive).Aim: The aim of the study was to determine the thickness of the tendinous and capsuloligamentous layers in the supraspinatus and infraspinatus zones of the shoulder. Materials and methods: Anatomical and ultrasonographic assessment of three fresh anatomical specimens consisting of the humeral head together with the capsuloligamentous layer called the superior complex and the supraspinatus and infraspinatus myotendinous units cut off at the level of the scapular glenoid rim. The first specimen was dissected on the length of approx. 10 mm from the glenoid insertion ­ the superior complex insertional zone to the scapula. Distally anterior (coraco-humeral and gleno-humeral superior ligaments) and posterior (gleno-humeral superior posterior ligament) limbs are connected by a transversely oriented ligament called the rotator cuff cable. This structure, together with the rest of the superior complex, belongs to the capsuloligamentous layer of the rotator cuff. The two other specimens were dissected (superior complex from the myotendinous units) from the level of the glenoid rim to the humeral insertion. Then the three specimens were scanned by ultrasound in a water bath and the measurements of both distinct layers were taken. Results: The rotator cuff in the supraspinatus and infraspinatus zone is a two-layer structure. The thickness of the tendinous and the capsuloligamentous layer is comparable. Conclusions: It may be concluded that the rotator cuff in the supraspinatus and infraspinatus zone is a two-layer structure, with the outer myotendinous layer, and the inner capsuloligamentous layer, which is called the superior complex. Since the thickness of these layers is comparable, it is important to bear in mind that the superior complex is an important part of shoulder biomechanics. Two different structures are found here ­ tendinous (dynamic) and capsuloligamentous (passive).

10.
BMC Endocr Disord ; 19(1): 68, 2019 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-31253144

RESUMO

BACKGROUND: Endogenous Cushing's syndrome, a rare endocrine disorder, characterised by chronic cortisol hypersecretion, results in neuropsychiatric disturbances and in cognitive deficits, which are only partially reversible after the biochemical remission of the disease. CASE PRESENTATION: We report a case of a woman with a profound cognitive deficit and a gradual functional decline caused by Cushing's disease of at least 10 years duration. The neurosurgical resection of her 2 mm adrenocorticotropic hormone (ACTH) secreting pituitary microadenoma resulted in a successful resolution of the patient's hypercortisolism and a significant recovery of her neurocognitive function. The patient's progress was evaluated using serial clinical observations, functional assessments, Mini-Mental Status exams and through the formal neuropsychological report. Furthermore, the patient's recovery of her neurocognitive function was reflected by a sustained improvement in the patient's specific structural brain abnormalities on radiological imaging. CONCLUSIONS: This report illustrates the importance of early detection and treatment of Cushing's syndrome in order to prevent neurocognitive impairment and neuropsychiatric disorders which are associated with an endogenous cortisol hypersecretion. The long term adverse effects of severe hypercortisolaemia on brain function and the pathophysiological mechanisms responsible for the structural and functional changes in brain anatomy due to glucocorticoid excess are reviewed.


Assuntos
Síndrome de Cushing/cirurgia , Transtornos Neurocognitivos/complicações , Adenoma Hipofisário Secretor de ACT/diagnóstico por imagem , Adenoma Hipofisário Secretor de ACT/cirurgia , Encéfalo/diagnóstico por imagem , Cognição , Síndrome de Cushing/complicações , Síndrome de Cushing/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Transtornos Neurocognitivos/cirurgia , Indução de Remissão , Fatores de Tempo
11.
Forensic Sci Med Pathol ; 15(2): 218-223, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30859375

RESUMO

Due to their anatomical location, occipital condylar fractures (OCFs) are usually not observed during traditional autopsies and are therefore considered a rare injury. The aim of this study was to determine the true frequency of OCFs using post-mortem computed tomography (PMCT) in traumatic casualties. We retrospectively analyzed 438 PMCT studies of victims of traffic accidents, falls from height, violence, and low-energy head injuries (324 males and 114 females). OCFs were present in 22.6% of cases (n = 99), mostly in victims of railway accidents (48.5%, n = 17), falls from height (26.6%, n = 29), cyclists (24%, n = 6), and pedestrians hit by cars (22.5%, n = 29). Isolated OCFs were found in 5.5% of cases (n = 24), most often in cyclists (12%, n = 3) and pedestrians (9.3%, n = 12) hit by cars. There were no OCFs in the cases of fatalities caused by violence or accidental low-energy head injury. PMCT scans revealed that OCFs are common in high-energy injury fatalities and can be useful for determining the mechanism of trauma more precisely.


Assuntos
Osso Occipital/diagnóstico por imagem , Osso Occipital/lesões , Fraturas Cranianas/diagnóstico por imagem , Fraturas Cranianas/epidemiologia , Acidentes por Quedas/estatística & dados numéricos , Acidentes de Trânsito/estatística & dados numéricos , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Ciclismo/estatística & dados numéricos , Traumatismos Craniocerebrais/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pedestres/estatística & dados numéricos , Abuso Físico/estatística & dados numéricos , Polônia/epidemiologia , Estudos Retrospectivos , Distribuição por Sexo , Fraturas Cranianas/classificação , Tomografia Computadorizada por Raios X , Adulto Jovem
13.
Eur J Hum Genet ; 27(1): 61-69, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30254215

RESUMO

PPP3CA encodes calmodulin-binding catalytic subunit of calcineurin, a ubiquitously expressed calcium/calmodulin-regulated protein phosphatase. Recently de novo PPP3CA variants were reported as a cause of disease in 12 subjects presenting with epileptic encephalopathy and dysmorphic features. We describe a boy with similar phenotype and severe early onset epileptic encephalopathy in whom a novel de novo c.1324C>T (p.(Gln442Ter)) PPP3CA variant was found by whole exome sequencing. Western blot experiments in patient's cells (EBV transformed lymphocytes and neuronal cells derived through reprogramming) indicate that despite normal mRNA abundance the protein expression level is strongly reduced both for the mutated and wild-type protein. By in vitro studies with recombinant protein expressed in E. coli we show that c.1324C>T (p.(Gln442Ter)) results in constitutive activation of the enzyme. Our results confirm the role of PPP3CA defects in pathogenesis of a distinct neurodevelopmental disorder including severe epilepsy and dysmorphism and provide further functional clues regarding the pathogenic mechanism.


Assuntos
Calcineurina/genética , Anormalidades Craniofaciais/genética , Epilepsia/genética , Mutação de Sentido Incorreto , Calcineurina/metabolismo , Células Cultivadas , Criança , Anormalidades Craniofaciais/patologia , Regulação para Baixo , Epilepsia/patologia , Humanos , Masculino , Fenótipo , Síndrome
14.
Arch Med Sadowej Kryminol ; 68(1): 10-19, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29895136

RESUMO

Suicide behind the steering wheel of a car is a relatively rare discovery, particularly if the cause of death is hanging. Therefore, such events give rise to suspicions that third parties were involved. This paper presents a case of hanging on the threshold of a car door, although what was taken into consideration during the investigation was suicide, death as a result of a road accident, accidental hanging on the seat belt, and even homicide. The cause of death was determined thanks to a very thorough autopsy which also involved the dissection of extremities and was complemented by additional examinations including toxicological tests. In addition to the medicolegal opinion the Prosecutor's Office took into consideration the opinions of other experts, including experts on the reconstruction of road accidents, and questioned witnesses from the closest social environment of the deceased, as well as strangers. The presented study underlines the significance of conducting a thorough autopsy and the necessity of corroboration of autopsy results with other investigation findings.


Assuntos
Asfixia , Suicídio , Acidentes , Autopsia , Homicídio , Humanos
15.
Psychoneuroendocrinology ; 77: 84-89, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28024273

RESUMO

In the light of contradictory results concerning OXTR polymorphism rs53576 and depression, we decided to verify the potential association between the two on 1) a large, ethnically homogenous sample of 1185 individuals who completed the Beck Depression Inventory (BDI), as well as on 2) a sample of 763 suicide victims. In the population sample, AA males showed significantly lower BDI scores (p=0.005, pcor=0.030). Exploratory analyses suggested that this effect was limited to a subgroup within 0-9 BDI score range (p=0.0007, U-Mann Whitney test), whereas no main effect on depressive symptoms (BDI>9) was found. In the suicide sample no association with rs53576 genotype was present. Exploratory analyses in suicides revealed higher blood alcohol concentration (BAC) among AA than GG/GA males (p=0.014, U-Mann Whitney test). Our results show that the OXTR rs53576 variant modulates the mood in male individuals and may positively correlate with alcohol intake among male suicides, but is not associated with suicide or depression. The study adds to the growing knowledge on rs53576 genotype characteristics.


Assuntos
Transtorno Depressivo/genética , Polimorfismo de Nucleotídeo Único , Receptores de Ocitocina/genética , Suicídio , Adulto , Afeto/fisiologia , Consumo de Bebidas Alcoólicas/genética , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais
16.
PLoS One ; 11(12): e0166618, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27941975

RESUMO

POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) identified to date. Clinical manifestations of DFNX2 usually comprise congenital HL either sensorineural or mixed, a tendency towards perilymphatic gusher during otologic surgery and temporal bone malformations. The aim of the present study was to screen for POU3F4 mutations in a group of 30 subjects with a suggestive clinical phenotype as well as a group (N = 1671-2018) of unselected hearing loss patients. We also planned to analyze audiological and radiological features in patients with HL caused by POU3F4 defects. The molecular techniques used to detect POU3F4 mutations included whole exome sequencing (WES), Sanger sequencing and real-time polymerase chain reaction. Hearing status was assessed with pure-tone audiometry and auditory brainstem response. Computer tomography scans were evaluated to define the pattern of structural changes in the temporal bones. Six novel (p.Gln27*, p.Glu187*, p.Leu217*, p.Gln275*, p.Gln306*, p.Val324Asp) and two known (p.Ala116fs141*, p.Leu208*) POU3F4 mutations were detected in the studied cohort. All probands with POU3F4 defects suffered from bilateral, prelingual, severe to profound HL. Morphological changes of the temporal bone in these patients presented a similar pattern, including malformations of the internal auditory canal, vestibular aqueduct, modiolus and vestibule. Despite different localization in the POU3F4 gene all mutations severely impair the protein structure affecting at least one functional POU3F4 domain, and results in similar and severe clinical manifestations. Sequencing of the entire POU3F4 gene is recommended in patients with characteristic temporal bone malformations. Results of POU3F4 mutation testing are important not only for a proper genetic counseling, but also for adequate preparation and conduction of a surgical procedure.


Assuntos
Perda Auditiva/diagnóstico , Perda Auditiva/genética , Mutação , Fatores do Domínio POU/genética , Fenótipo , Tomografia Computadorizada por Raios X , Substituição de Aminoácidos , Audiometria de Tons Puros , Códon , Análise Mutacional de DNA , Exoma , Feminino , Genes Ligados ao Cromossomo X , Estudos de Associação Genética , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Linhagem , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologia
17.
BMJ Case Rep ; 20162016 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-27507689

RESUMO

The atypical antipsychotic agent clozapine, although an effective treatment for schizophrenia, is linked with metabolic adverse effects. We report a case of diabetic ketoacidosis and very severe hypertriglyceridaemia associated with clozapine use, in a patient with type 2 diabetes mellitus, who was successfully treated with continuous insulin infusion and fluids. As clozapine proved to be the most efficacious in controlling the patient's psychotic symptoms, the patient has been continued on clozapine despite its known metabolic side effects. Importantly the patient has achieved satisfactory long-term lipid and glycaemic control. The current recommendations related to the metabolic care for patients treated with atypical antipsychotic agents as well as the mechanisms behind abnormal glucose and lipid regulation with clozapine therapy are discussed.


Assuntos
Antipsicóticos/efeitos adversos , Clozapina/efeitos adversos , Diabetes Mellitus Tipo 2/complicações , Cetoacidose Diabética/induzido quimicamente , Hipertrigliceridemia/induzido quimicamente , Transtornos Psicóticos/tratamento farmacológico , Adulto , Hidratação , Humanos , Hipoglicemiantes/administração & dosagem , Infusões Intravenosas , Insulina/administração & dosagem , Masculino , Transtornos Psicóticos/complicações , Resultado do Tratamento
18.
Arch Med Sadowej Kryminol ; 66(4): 255-261, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28677380

RESUMO

The paper presents a rare case of injury to the brachiocephalic trunk wall during percutaneous tracheotomy. The complication developed in a post-cardiac arrest patient in a poor general condition. During hospitalization in the Intensive Care Unit, the patient suffered a haemorrhage directly from and around the endotracheal tube. After another episode of massive bleeding the patient died. The autopsy found that the source of the bleeding was injury to the brachiocephalic trunk.


Assuntos
Tronco Braquiocefálico/lesões , Intubação Intratraqueal/efeitos adversos , Hemorragia Pós-Operatória/etiologia , Traqueotomia/efeitos adversos , Idoso , Tronco Braquiocefálico/cirurgia , Estado Terminal , Evolução Fatal , Humanos , Masculino , Respiração Artificial/efeitos adversos
19.
J Gastroenterol Hepatol ; 24(2): 243-7, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19215335

RESUMO

OBJECTIVES: The aim of this study was to determine if there is an association between non-alcoholic fatty liver disease (NAFLD) and polycystic ovarian syndrome (PCOS). NAFLD and PCOS are both known to be associated with metabolic syndrome/insulin resistance. METHOD: Fourteen consecutive female patients of reproductive age (20-45) either with liver biopsy proven NAFLD (50%) or abdominal ultrasound (US) consistent with steatosis together with elevated ALT levels (50%) were screened for PCOS using 2003 Rotterdam consensus meeting criteria. Other causes of hyperandrogenism were excluded. All subjects underwent relevant questionnaire and clinical exam together with hormonal assays, pelvic (1) or transvaginal US (13) and were screened for evidence of the metabolic syndrome. RESULTS: Ten out of fourteen women matched 2003 Rotterdam consensus meeting diagnostic criteria for PCOS (71%). Eight women suffered from oligo/amenorrhoea, nine women manifested presence of hyperandrogenism and six had history of infertility. Seven women had evidence of biochemical hyperandrogenism with low SHBG, raised free testosterone and elevation of serum LH concentration. Seven women fulfilled US criteria for PCOS. Three of ten patients with PCOS also had type 2 diabetes mellitus. Women with PCOS and NAFLD had higher triglyceride and cholesterol and lower HDL level than group without PCOS. Five patients with NAFLD and PCOS had documented fibrosis on liver biopsy, indicative of more advanced liver disease. IMPLICATIONS: Despite limitations of the study due to the sample size, we found evidence of PCOS in the majority of subjects with NAFLD. Women with NAFLD should be routinely screened for presence of PCOS, diabetes mellitus and metabolic risk factors for cardiovascular disease. Equally, women with PCOS should be screened for NAFLD. Evaluation for liver disease should be considered at an earlier age in some women with PCOS particularly those with an evidence of metabolic syndrome.


Assuntos
Fígado Gorduroso/epidemiologia , Síndrome do Ovário Policístico/epidemiologia , Adulto , Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Fígado Gorduroso/fisiopatologia , Feminino , Humanos , Resistência à Insulina , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Projetos Piloto , Síndrome do Ovário Policístico/fisiopatologia , Prevalência , Estudos Prospectivos , Adulto Jovem
20.
Clin Nucl Med ; 31(11): 683-7, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17053384

RESUMO

Breast accumulation of I-131 may be an undesirable effect of I-131 ablation in postpartum women being treated for differentiated thyroid cancer. The use of diagnostic I-123 scintigraphy before ablation does allow an assessment of potential postablative breast uptake in such patients. This case series of 8 patients evaluates I-123 scintigraphy in the assessment of breast uptake in postpartum women with thyroid cancer. Of these patients, 7 were studied at various times after cessation of lactation and in one patient, lactation was not initiated at all. Of the group who did not receive lactation-inhibiting medications, there was variable breast uptake demonstrated and by 6 months postcessation of lactation, some patients showed persisting breast uptake but others demonstrated no uptake. In the group treated with lactation-inhibiting medications, such as bromocriptine or cabergoline, breast uptake appears to be reduced much earlier with uptake becoming absent after as little as 3 weeks of treatment. There was barely discernible uptake in the patient in whom lactation was never initiated. I-123 scintigraphy may help guide clinicians on the appropriate timing of radioiodine ablation to help minimize concentration of I-131 in breast tissue.


Assuntos
Mama/diagnóstico por imagem , Mama/metabolismo , Radioisótopos do Iodo/farmacocinética , Proteção Radiológica/métodos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/radioterapia , Adulto , Feminino , Humanos , Radioisótopos do Iodo/uso terapêutico , Radiometria/métodos , Cintilografia , Compostos Radiofarmacêuticos/farmacocinética , Compostos Radiofarmacêuticos/uso terapêutico , Dosagem Radioterapêutica , Planejamento da Radioterapia Assistida por Computador/métodos , Medição de Risco/métodos , Fatores de Risco , Neoplasias da Glândula Tireoide/metabolismo , Fatores de Tempo
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