LipoDDx: a mobile application for identification of rare lipodystrophy syndromes.

BACKGROUND: Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of the HIV-associated lipodystrophy, they have a very low prevalence, which together with their large phenotypic heterogeneity makes their identification difficult, even for endocrinologists and pediatricians. This leads to significant delays in diagnosis or even to misdiagnosis. Our group has developed an algorithm that identifies the more than 40 rare lipodystrophy subtypes described to date. This algorithm has been implemented in a free mobile application, LipoDDx®. Our aim was to establish the effectiveness of LipoDDx®. Forty clinical records of patients with a diagnosis of certainty of most lipodystrophy subtypes were analyzed, including subjects without lipodystrophy. The medical records, blinded for diagnosis, were evaluated by 13 physicians, 1 biochemist and 1 dentist. Each evaluator first gave his/her results based on his/her own criteria. Then, a second diagnosis was given using LipoDDx®. The results were analysed based on a score table according to the complexity of each case and the prevalence of the disease. RESULTS: LipoDDx® provides a user-friendly environment, based on usually dichotomous questions or choice of clinical signs from drop-down menus. The final result provided by this app for a particular case can be a low/high probability of suffering a particular lipodystrophy subtype. Without using LipoDDx® the success rate was 17 ± 20%, while with LipoDDx® the success rate was 79 ± 20% (p < 0.01). CONCLUSIONS: LipoDDx® is a free app that enables the identification of subtypes of rare lipodystrophies, which in this small cohort has around 80% effectiveness, which will be of help to doctors who are not experts in this field. However, it will be necessary to analyze more cases in order to obtain a more accurate efficiency value.

Development and validation of a clinical score to estimate progression to severe or critical state in COVID-19 pneumonia hospitalized patients.

The prognosis of a patient with COVID-19 pneumonia is uncertain. Our objective was to establish a predictive model of disease progression to facilitate early decision-making. A retrospective study was performed of patients admitted with COVID-19 pneumonia, classified as severe (admission to the intensive care unit, mechanic invasive ventilation, or death) or non-severe. A predictive model based on clinical, laboratory, and radiological parameters was built. The probability of progression to severe disease was estimated by logistic regression analysis. Calibration and discrimination (receiver operating characteristics curves and AUC) were assessed to determine model performance. During the study period 1152 patients presented with SARS-CoV-2 infection, of whom 229 (19.9%) were admitted for pneumonia. During hospitalization, 51 (22.3%) progressed to severe disease, of whom 26 required ICU care (11.4); 17 (7.4%) underwent invasive mechanical ventilation, and 32 (14%) died of any cause. Five predictors determined within 24 h of admission were identified: Diabetes, Age, Lymphocyte count, SaO2, and pH (DALSH score). The prediction model showed a good clinical performance, including discrimination (AUC 0.87 CI 0.81, 0.92) and calibration (Brier score = 0.11). In total, 0%, 12%, and 50% of patients with severity risk scores ≤ 5%, 6-25%, and > 25% exhibited disease progression, respectively. A risk score based on five factors predicts disease progression and facilitates early decision-making according to prognosis.

[Hiccup: review of 24 cases]. / Hipo (singultus): revisión de 24 casos.

BACKGROUND: Although common and usually benign, hiccups can be an extremely uncomfortable disease. There is not much information about persistent and refractory hiccups. AIM: To report clinical features of patients admitted in a hospital due to hiccup. PATIENTS AND METHODS: A retrospective study and prospective follow up of patients admitted for hiccup in Hospital Clínico de Santiago de Compostela between January 1998 and May 2005. RESULTS: Twenty four patients (age 47 to 91 years, 23 males) were studied. Nineteen (79%) were admitted because of persistent hiccups. In twenty one patients, at inverted exclamation markeast one organic etiology was identified, and thirteen patients presented two or more possible associated conditions. The most common possible causes were digestive tract disorders, followed by central nervous system diseases. Twelve patients had a history of exposure to drugs that potentially could cause hiccups, mainly corticosteroids and benzodiazepines. Chlorpromazine was the first choice treatment in 23 patients, but seven required a second line drug. Average hospital stay was 13 days (range 3-90 days). Twelve patients died during follow up. Death occurred during the first three months of follow up in 61%. CONCLUSIONS: Persistent hiccup is often associated with organic conditions, specially advanced tumors of the digestive tract. It is usually associated with a bad prognosis.

Influence of superimposed alcoholic hepatitis on the outcome of liver transplantation for end-stage alcoholic liver disease.

BACKGROUND/AIMS: Alcoholic cirrhosis is a common indication for liver transplantation. The present study was aimed to assess the influence of superimposed alcoholic hepatitis on the outcome of liver transplantation in patients with alcoholic cirrhosis. METHODS: Survival rates of 68 patients transplanted for alcoholic cirrhosis were compared with those of 101 patients transplanted for miscellaneous causes. Within the alcoholic group, explanted livers were searched for data of acute alcoholic hepatitis. The survival rate of patients with alcoholic hepatitis superimposed on liver cirrhosis was compared to that of patients with liver cirrhosis alone. Clinical severity of alcoholic hepatitis was assessed with Maddrey's score. RESULTS: Survival was similar in alcoholics and patients with other causes of liver disease. Among patients transplanted for alcoholic cirrhosis, survival was similar in patients with superimposed alcoholic hepatitis (n=36) and in cases with liver cirrhosis alone (n=32). There was no difference in survival between patients with mild (n=26) and severe (n=10) alcoholic hepatitis. Seven alcoholics (10%) returned to ethanol consumption. Recidivism was not associated with either alcoholic hepatitis in the explanted liver or graft loss. CONCLUSIONS: Survival after liver transplantation in patients with alcoholic cirrhosis plus alcoholic hepatitis detected in the explanted liver is similar to that of patients transplanted for other reasons. Even the presence of severe alcoholic hepatitis does not worsen the outcome of liver transplantation for end-stage alcoholic liver disease.

Hipo (singultus): revisión de 24 casos / Hiccup: Review of 24 cases

Background: Although common and usually benign, hiccups can be an extremely uncomfortable disease. There is not much information about persistent and refractory hiccups. Aim: To report clinical features of patients admitted in a hospital due to hiccup. Patients and Methods: A retrospective study and prospective follow up of patients admitted for hiccup in Hospital Cl¡nico de Santiago de Compostela between January 1998 and May 2005. Results: Twenty four patients (age 47 to 91 years, 23 males) were studied. Nineteen (79 percent) were admitted because of persistent hiccups. In twenty one patients, at ¡east one organic etiology was identified, and thirteen patients presented two or more possible associated conditions. The most common possible causes were digestive tract disorders, followed by central nervous system diseases. Twelve patients had a history of exposure to drugs that potentially could cause hiccups, mainly corticosteroids and benzodiazepines. Chlorpromazine was the first choice treatment in 23 patients, but seven required a second line drug. Average hospital stay was 13 days (range 3-90 days). Twelve patients died during follow up. Death occurred during the first three months of follow up in 61 percent. Conclusions: Persistent hiccup is often associated with organic conditions, specially advanced tumors of the digestive tract. It is usually associated with a bad prognosis.

Fiebre recurrente y bacteriemia por Staphylococcus aureus / Relapsing fever and Staphylococcus aureus bacteriemia

No disponible

Dos casos de hipertensión portal segmentaria en relación con la enfermedad no pancreática / Two cases of segmental portal hypertension associated with pancreatic disease

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