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Biomedical subjects

A Palomeque

Publications and source records attributed to A Palomeque.

At least 19 recordsLinked to original sources

Indications and therapeutical options in hepatolithiasis.

OBJECTIVE: to present our experience with the treatment of hepatolithiasis. PATIENTS AND METHODS EXPERIMENTAL DESIGN: a retrospective study. Every patient operated on during 2002-2004. RESULTS: mean age was 68.2 years. All patients were male. Two patients had been operated on before. The other three suffered from: monolobar Caroli s disease (1), cholangiocarcinoma (1), and hepatolihtiasis without clear etiologic factors (1). All of them had intrahepatic and extrahepatic litihiasis. Clinical signs included: pain in RUQ, fever, and jaundice. Bilirubin was 3.5 mg/dl (min: 1.7, max: 5.9), GGT: 676.2 IU/l (min: 29, max: 2039), and alkaline phosphatase: 400 IU/l (min: 100, max: 1136). Abdominal ultrasounds always correctly diagnosed HL. CT (3 patients) only diagnosed one case. ERCP (3 patients) and cholangio-MRI (2 patients) always diagnosed HL correctly. Surgical procedures were: hepatojejunostomy with lavage of bile duct (2 cases) and hepatectomy (3 cases) -both right (1) and left (2). We always performed an intraoperative ultrasonography and choledoscopy. Morbidity was: biliary fistula (1 case) treated by percutaneous drainage. No mortality occurred. Median stay was 8.8 days. Mean follow-up is 12 months (min: 11, max: 20). No relapse has been observed. CONCLUSIONS: HL is infrequent in Spain. Surgical treatment, usually liver resection, obtains good results with low morbidity and mortality.

Adult↗

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with Coffin-Lowry syndrome. The first mutation consists of a de novo insertion of a 5'-truncated LINE-1 element at position -8 of intron 3, which leads to a skipping of exon 4, leading to a shift of the reading frame and a premature stop codon. The L1 fragment (2800 bp) showed a rearrangement with a small deletion, a partial inversion of the ORF 2, flanked by short direct repeats which duplicate the acceptor splice site. However, cDNA analysis of the patient shows that both sites are apparently not functional. The second family showed the nucleotide change 803T>C in exon 10, resulting in the F268S mutation. This mutation was detected in two monozygotic twin patients and in their mother, who was mildly affected. The patients fulfill the clinical criteria of the syndrome, and therefore the mutation provides further support for the importance of phenylalanine at position 268, which is highly conserved in the protein kinase domain of many serine-threonine protein kinases.

Adult↗

Use of the Pediatric Risk of Mortality Score as predictor of death and serious neurologic damage in children after submersion.

OBJECTIVE: To evaluate the Pediatric Risk of Mortality score (PRISM score) as a tool to evaluate the vital and neurologic prognosis of patients after submersion. METHODS: We conducted a retrospective analysis of the clinical histories of patients admitted to a tertiary pediatric hospital, Hospital Sant Joan de Déu, Barcelona, Spain from December 1977 to December 1999 as a consequence of near-drowning. PRISM score was calculated for each patient with data obtained upon arrival at the hospital. The probability of death was calculated using this score. RESULTS: There were 60 patients, divided into two groups as they were admitted to the Pediatric Intensive Care Unit (PICU group, n = 41) or to the Short Stay Unit (SSU group, n = 19). All patients in the SSU group survived without impairments, with PRISM scores or=24 or with probability of death >or=42% either died or had serious neurologic impairment. One third of patients with PRISM scores between 17 and 23 and/or probability of death between 16 and 42% either presented serious neurologic impairment or died. CONCLUSIONS: PRISM score enables the determination of either absence or presence of serious impairment or death in pediatric patients after submersion, if they present extreme values on this scale. However, in patients with intermediate PRISM scores, it is not possible to establish a reliable prognosis.

Adolescent↗

Severe aplastic anaemia following hepatitis A.

A 3-year-old child developed severe aplastic anaemia following hepatitis A. Since no HLA-compatible donor was available, he was treated with oxymetholone, antithymocytic globulin and methylprednisolone, but no haematologic recovery was observed and he consequently died of pneumonia. Although the association of aplastic anaemia and hepatitis A has already been recognized, this patient represents the first case of aplastic anaemia in which the previous hepatitis A has been well documented.

Anemia, Aplastic↗

[Reye's syndrome in Spain, 1980-1984 (A cooperative study: Pediatric Intensive Care Section of the Asociación Española de Pediatría)].

The incidence of the Reye syndrome in Spain has been retrospectively reviewed from 1980 to 1984. A survey of 57 cases has been available to study. It is pointed out the low frequency (0.12/10(5) 15 years); the low mean age (12 month) due to a higher prevalence in infants; the high mortality rate (49%), proportional to the great number of III and IV Lovejoy's stages; the low correlation with chicken-pox and salycilate-intake in the prodromic period and a better prognosis in patients when barbituric coma was established along with other measures.

Aspirin↗

[Munchausen syndrome induced as recurrent imipramine poisoning].

A nine-year-old girl with Munchausen syndrome by proxy is reported. She had been admitted to different hospitals for 17 times in the last seven years. Clinical complaint were complex neurological symptoms and the first diagnosis was acute intermittent porphyria. It was demonstrated later that this symptoms were due to imipramine poisoning given by her mother.

Child↗

[Vertical transmission of hepatitis B from a maternal HBeAg-negative and antiHBe-positive carrier].

A case of vertical transmission of hepatitis B in an infant, born to a carrier mother HBeAg negative an anti Hbe positive, who developed and hyper-acute hepatitis, is presented. It was thought until quite recently, that perinatal hepatitis B was only transmitted by those HBsAg carrier mothers with positive HBeAg and negative anti Hbe. The infant here presented shows that all HBsAg carrier mothers are potential transmitters, and that all their newborns must have immunoprophylaxis. The current impression also confirms that, in the case of these children being infected, it does not follow that they will remain chronic carriers, as is so often seen when the mother is a positive HBeAg carrier.

Carrier State↗

[Results and complications of CSF shunting in hydrocephalus].

Fifty four patients with hydrocephalus treated with surgical derivations were evaluated in retrospect. The total number of derivations made to this group was 76. Initially 30 valves were from VA type and the remaining 24 from VP type, but reintervention was needed in 15 and 11 respectively. The etiology of hydrocephalus was congenital in 61%; infectious, in 24%; tumoral, in 8%, and consequence of a traumatism, in 7%. Twenty-three patients (42%) followed a good evolution without any complication as much immediately as later. The other 31 patients (57%) have had some kind of postoperative complication. In 26 patients (48%) the valve had to be removed. The main causes were infection in 10 cases (18%) and obstruction in 14 cases (25%). Usually the staphylococcus was the infectious agent. Ten of the patients died (18%), eight of them by a complication directly related to the shunt.

Anti-Bacterial Agents↗

[Hyperosmolar non-ketotic diabetic coma in children (author's transl)].

A 12 year old female patient presenting non ketotic hyperosmolar hyperglycemic coma as initial sign of diabetes mellitus is presented. She was successfully treated with continuous infusion of low dose of insulin and saline and glycosaline isotonic sera. Potassium was precociously added to the hydrating solutions. During convalescence she suffered a left iliofemoral thrombophlebitis which remitted with appropriate treatment. In coma stage, C-peptide was close to normal, indicating active insulin production by the pancreas.

Child↗

[Nephrotic syndrome by diffuse mesangial sclerosis (author's transl)].

This case deals with a 15-month old male child affected with a nephrotic syndrome resulting in grave chronic renal failure, determined histologically as diffuse mesangial sclerosis. The most frequent causes of nephrotic syndrome in the first year of life are analyzed along wiht their diagnostic differential, with special attention to the Finish or microcystic congenital nephrotic syndrome and to diffuse mesangial sclerosis. In the discussion contradictions existing in the bibliography on diffuse mesangial sclerosis are shown in its clinical and developmental aspects as well as the prognostic and even in the pathological anatomy, which leads us to believe that this illness may be more complex than what it appears, and subdividing it into illnesses of different etiology, development and prognosis; or that some of the cases. described as such may not be the same as those described by R. Habib in 1973. In the present case the deposits of C3 and IgM are worth noting, as they were not described in the other 11 cases, also the study done with the electron microscope, which also was not done in the previous cases.

Complement C3↗