RESUMO
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly with fatty liver precipitated by catabolic stress. We report acute presentation of two patients from unrelated two families with novel homozygous c.862C>T and c.725-2A>C mutations, respectively, in HMGCS2 gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease.
Assuntos
Hidroximetilglutaril-CoA Sintase/deficiência , Hipoglicemia/etiologia , Erros Inatos do Metabolismo/etiologia , Doenças Mitocondriais/etiologia , Mutação , Acidose/genética , Adolescente , Pré-Escolar , Feminino , Hepatomegalia/genética , Humanos , Hidroximetilglutaril-CoA Sintase/genética , Hipoglicemia/genética , Lactente , Letargia/etiologia , Masculino , Erros Inatos do Metabolismo/genética , Doenças Mitocondriais/genética , TurquiaRESUMO
BACKGROUND: The aim of this study was to determine the frequency and the risk factors of stress induced gastrointestinal bleeding (GIB) in critically ill children, and to investigate the effect of prophilaxis. The setting was a 14-beded, tertiary care PICU. METHODS: Records of 182 children admitted consecutively from December 2012 to May 2013 were retrospectively reviewed. 136 patients were eligible. The age ranged from 40 days to 18 years. Diagnosis, demographic data, risk factors, administration of prophilaxis, drugs used in medication, prescence and degree of GIB and complications were recorded. RESULTS: The male-female ratio was 1.3. Mean age was 5.9. Mean PRISM III score was 12.2 and 49.3% had PRISM Score ≥10. Most frequent diagnosis was infectious diseases. Sixtyone (44.9%) children received prophylaxis in which antacids was used in 28 (45.9%), sucralfate in 18 (29.5%), proton pomp inhibitors (PPIs) in 51 (83.6%) and 5 (8.2%) received H2 reseptor antagonist. The incidence of GIB was 15.4% (N.=21), in which 66.7% (N.=14) were mild, 23.8% (N.=5) were moderate, 4.8% (N.=1) was significant and 4.8% (N.=1) was massive. In children who received prophylaxis 17 (27.9%) cases developed GIB. Mechanical ventilation was found to be the only risk factor significantly associated with stress induced GIB. Also; mechanical ventilation and trauma was strongly significant (P<0.001) and coagulopathy/thrombocytopenia, PRISM III ≥10, renal and hepatic failure, hypotension, and heart failure/arrhythmia was found to be associated with the development of GIB in critically ill children (P<0.05). CONCLUSION: GIB is a serious concern for PICU clinicians and intensivists are confused about the conflicting evidence supporting prophilaxis. We believe that prophylaxis could be beneficial for mechanically ventilated children. Also trauma, coagulopathy/thrombocytopenia, PRISM III≥10, renal and hepatic failure, hypotension, and heart failure/arrhythmia must be kept in mind as risk factors requiring attention in PICU setting.
Assuntos
Antiulcerosos/uso terapêutico , Hemorragia Gastrointestinal/etiologia , Unidades de Terapia Intensiva Pediátrica , Respiração Artificial/efeitos adversos , Adolescente , Criança , Pré-Escolar , Estado Terminal , Feminino , Hemorragia Gastrointestinal/epidemiologia , Hemorragia Gastrointestinal/prevenção & controle , Humanos , Incidência , Lactente , Masculino , Estudos Retrospectivos , Fatores de RiscoRESUMO
BACKGROUND: Cataract surgery is the most commonly performed surgical procedure in developed countries. The annual number of cataract surgeries in Germany is about 600,000. Acute postoperative endophthalmitis is a very severe and the most dreaded complication of cataract surgery. Various operative and non-operative measures have been suggested to prevent this serious complication. The European Society of Cataract & Refractive Surgeons (ESCRS) study of intracameral cefuroxime was the first prospective, randomised and partially placebo-controlled clinical trial showing the efficacy of antibiotic prophylaxis to prevent endophthalmitis in 2007. The aim of this retrospective study is to investigate a possible reduction of intracameral cefuroxime to prevent postoperative endophthalmitis at the University Eye Hospital Tübingen. PATIENTS AND METHODS: During the period from January 2002 to August 2013, 2 time periods were determined based on the adoption of intracameral cefuroxime injections after cataract surgery. From January 2002 to May 2009 patients received at the end of cataract surgery a subconjunctival administration of 50 mg of mezlocillin and postoperative antibiotic eye drops (gentamicin) without intracameral injection. From June 2009 to August 2013, patients received an intracameral injection of cefuroxime while antibiotic drops (moxifloxacin) were used too. The rates of postoperative infectious endophthalmitis during these 2 periods were calculated. RESULTS: 31 cases of endophthalmitis occurred in 31,386 cataract surgeries. The overall cumulative incidence was 0.99 per 1000 patients. The incidence in the first period without intracameral cefuroxime injection was 1.38 (95â% confidence interval [CI]: 1.03-1.72) per 1000 patients and in the second period 0.44 (95â% CI: 0.34-0.54) per 1000 patients (p < 0.001). CONCLUSION: Intracameral injection of cefuroxime reduces the rate of postoperative infectious endophthalmitis in cataract surgery significantly.
Assuntos
Antibioticoprofilaxia/estatística & dados numéricos , Extração de Catarata/estatística & dados numéricos , Cefuroxima/administração & dosagem , Endoftalmite/epidemiologia , Endoftalmite/etiologia , Endoftalmite/prevenção & controle , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/prevenção & controle , Idoso , Antibacterianos/administração & dosagem , Antibioticoprofilaxia/métodos , Causalidade , Comorbidade , Endoftalmite/diagnóstico , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Estudos Longitudinais , Masculino , Estudos Retrospectivos , Medição de Risco , Resultado do TratamentoRESUMO
BACKGROUND AND PURPOSE: The Woven EndoBridge device (WEB) was introduced for the intrasaccular treatment of wide-neck aneurysms without the need for adjunctive devices. We used the WEB as a primary treatment for 100 ruptured aneurysms regardless of neck size or location. In this study, we present the long-term follow-up of 78 surviving patients. MATERIALS AND METHODS: Between February 2015 and April 2017, one hundred ruptured aneurysms were treated with the WEB. For surviving patients, angiographic and clinical follow-up was scheduled at 3 months, and 3T MRA and clinical follow-up, at 6, 12, 36, and 60 months. Of 100 patients, 18 died during hospital admission, and in 4, the ruptured aneurysm was additionally treated. The remaining 78 patients had a mean follow-up of 51 months (median, 52 months; range, 5-84 months). There were 57 women and 21 men, with a mean age of 58.5 years (median, 59 years; range, 24-80 years). Of 78 aneurysms with long-term follow-up, 52 (66%) had a wide neck. RESULTS: Of 78 ruptured aneurysms, 56 (72%) remained completely occluded and 17 (22%) had a stable small neck remnant. Five of 78 aneurysms (6%; 95% CI, 2.4%-14.5%) reopened during follow-up and were additionally treated. There were no rebleeds during follow-up. CONCLUSIONS: Treatment of ruptured aneurysms with the WEB was safe and effective and has long-term results comparable with those of simple coiling of small-neck aneurysms. The WEB proved to be a valuable alternative to coils for both wide- and small-neck ruptured aneurysms without the need for stents, balloons, or antiplatelet therapy.
Assuntos
Aneurisma Roto , Embolização Terapêutica , Procedimentos Endovasculares , Aneurisma Intracraniano , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Seguimentos , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/terapia , Resultado do Tratamento , Procedimentos Endovasculares/métodos , Aneurisma Roto/diagnóstico por imagem , Aneurisma Roto/terapia , Embolização Terapêutica/métodos , Estudos RetrospectivosRESUMO
AIMS: The contribution of sex hormones to micro- and macrovascular damage might differ among women and men. In particular, little is known about the association between sex hormones and small vessel disease. Therefore, we examined the association of total oestradiol, total testosterone, free-androgen index (FAI), dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione levels with micro- and macrovascular diseases. METHODS AND RESULTS: This cross-sectional study included 2950 women and 2495 men from the population-based Rotterdam Study. As proxy of microvascular damage, we measured diameters of retinal arterioles and venules. Markers of macrovascular damage included carotid intima-media thickness and carotid plaque, coronary artery calcification (CAC), and peripheral artery disease. Linear and logistic regression models were used and adjusted for age, cardiovascular risk factors, and years since menopause. Associations with microvasculature: In women, total testosterone [mean difference per 1-unit increase in natural-log transformed total testosterone (95% confidence interval, CI): 2.59 (0.08-5.09)] and androstenedione [4.88 (1.82-7.95)] and in men DHEAS [2.80 (0.23-5.37)] and androstenedione [5.83 (2.19-9.46)] were associated with larger venular caliber. Associations with markers of large vessel disease: In women, higher total testosterone [-0.29 (-0.56 to -0.03)], FAI [-0.33 (-0.56 to -0.10)], and androstenedione levels [-0.33 (-0.64 to -0.02)] were associated with lower CAC burden and FAI [odds ratio (95% CI): 0.82 (0.71-0.94)] was associated with lower prevalence of plaque. CONCLUSION: A more androgenic profile was associated with more microvascular damage in both women and men. Among women, however, higher androgen levels were also associated with less macrovascular damage. Our findings suggest that androgens might have distinct effects on the vasculature, depending on the vascular bed and stages of the atherosclerosis process.
Assuntos
Androgênios , Androstenodiona , Biomarcadores , Espessura Intima-Media Carotídea , Estudos Transversais , Sulfato de Desidroepiandrosterona , Feminino , Hormônios Esteroides Gonadais , Humanos , Masculino , Globulina de Ligação a Hormônio Sexual , TestosteronaRESUMO
Pulmonary artery sling is a rare congenital vascular abnormality, where the left pulmonary artery originates from the right pulmonary artery, passes between trachea, and esophagus and reaching the left hilum. Cough, wheezing, and difficulty in feeding are three major symptoms. Untreated pulmonary sling carries high morbidity and mortality, most of which is due to the airway and other associated anomalies. Herein, we reported a 40-day-old male infant who admitted to the pediatric intensive care unit with progressive respiratory distress and diagnosed with left pulmonary sling with tracheal stenosis. We discussed the diagnosis and management of pulmonary artery sling and present the successful use of laryngeal mask in difficult airway management.
RESUMO
The manifestation of cognitive and physical impairment in stroke patients before the acute event suggests accumulating subclinical vascular pathology in the brain. We investigated whether impairments in cognitive and physical functioning were associated with an increased stroke risk. Between 2002 and 2008, 8,519 stroke-free non-demented participants from the population-based Rotterdam Study underwent cognition and physical assessments including Mini-Mental State Examination, 15-word learning test, Stroop test, letter-digit substitution test, verbal fluency test, Purdue pegboard test and questionnaires on basic and instrumental activities of daily living (BADL; IADL). Principal component analysis was used to derive global cognition (G-factor). Incident stroke was assessed through continuous monitoring of medical records until 2016. Among 8,519 persons (mean age 66.0 years; 57.8% women), 489 suffered a stroke during mean follow-up of 8.7 years (SD: 2.9). Worse G-factor was associated with higher stroke risk (Hazard Ratio 1.21, 95% CI: 1.06-1.38), largely driven by unspecified stroke. Likewise, worse scores on 15-word learning test, Stroop test, Purdue pegboard test, IADL, and BADL were associated with higher risk of stroke. Thus both worse cognitive and physical functioning were associated with a higher stroke risk, in particular unspecified stroke and persons with worse memory, information processing, executive function, and motor function.
Assuntos
Disfunção Cognitiva/diagnóstico , Processos Mentais , Desempenho Físico Funcional , Acidente Vascular Cerebral/diagnóstico , Idoso , Diagnóstico Precoce , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de RiscoRESUMO
AIMS AND OBJECTIVE: This study aimed to investigate the value of Thiol/Disulfide homeostasis in pediatric diabetic ketoacidosis patients suffering from type 1 diabetes mellitus. MATERIALS AND METHODS: This study featured children who were diagnosed with diabetic ketoacidosis and who were consecutively admitted to pediatric intensive care within one year of their diagnosis. Thiol/disulfide homeostasis was evaluated in 45 pediatric patients suffering from DKA, as well as 45 healthy controls of parallel gender and age. Thiol/disulfide homeostasis parameters were measured using a novel automated measurement method and the correlation between demographic data and parameters was measured. RESULTS: Pediatric patients were found to have low native thiols, total thiols and disulfide levels with type 1 diabetes after DKA (331.82±106.40, 362.71±113.31, 17.02±5.33 µmol/L, respectively) as compared to the control group (445.08±24.41, 481.21± 28.47, 18.06±5.12 µmol/L, respectively). CONCLUSION: Thiol/disulfide homeostasis was distorted in pediatric patients with DKA. Furthermore, it was found that they are not likely to return to normal, immediately after treatment.
Assuntos
Diabetes Mellitus Tipo 1/diagnóstico , Cetoacidose Diabética/diagnóstico , Dissulfetos/sangue , Homeostase , Compostos de Sulfidrila/sangue , Biomarcadores/sangue , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Estresse OxidativoRESUMO
AIM AND OBJECTIVE: Ischemia modified albumin (IMA) is a biomarker that has been introduced recently for use in the evaluation of oxidative stress. The aim of this study was to measure the ischemia modified albumin serum levels in pediatric patients with diabetic ketoacidosis (DKA) during acidosis and after the patient recovered from acidosis and to compare these with the control group. MATERIALS AND METHODS: Pediatric patients with Type I diabetes mellitus (T1DM) who were admitted to the pediatric intensive care unit with the diabetic ketoacidosis were assigned as the study group and healthy children who were admitted to the outpatient clinic and decided as healthy after clinic and laboratory evaluation were selected as the control group. IMA and adjusted IMA levels were evaluated in the blood samples from the control group and the study group when admitted first time to the intensive care unit during the acidosis period (DKA before treatment, DKA-BT), and after recovering from acidosis (DKA after treatment, DKA-AT). RESULTS: A total of 24 pediatric patients with diabetic ketoacidosis and 30 healthy control children matching age and sex were included in the current study. The albumin levels in pediatric patients with T1DM during DKA-BT were higher than the albumin levels after acidosis (4.101±0.373, 3.854±0.369 g/dL, respectively) (p<0.05). However, there was no significant difference when these values were compared to the control group. Mean values of IMA and Adj-IMA were statistically higher in DKAAT compared to the control group (0.748±0.150 vs 0.591±0.099, p< 0.001; 0.708±0.125 vs 0.607±0.824, p< 0.001, respectively). IMA and adjusted IMA levels measured after recovered from acidosis were significantly higher compared to the level of IMA during DKA (0.748±0.150 vs 0.606±0.105 as absorbance unit, p<0.001; 0.708±0.125 vs 0.625±0.100, p<0.05, respectively). CONCLUSION: In children with T1DM, even though acidosis recovered following the treatment in diabetic ketoacidosis, which is an oxidative stress marker, the ischemia modified albumin levels and adjusted ischemia modified albumin levels were high.