Surgical treatment for pelvic lipomatosis using a bladder-sparing technique: A STROBE-compliant study.

The aim of this study was to report the experience and long-term efficacy of a novel surgical treatment for pelvic lipomatosis (PL) using a combination of pelvic fat mass extirpation and ureteral reimplantation.Data of 8 patients with PL who underwent pelvic fat mass extirpation and ureteral reimplantation at our hospital from September 2010 to March 2018 were retrospectively reviewed. Demographics, serum creatinine level, radiographic changes, perioperative complications, and patient-reported outcomes were evaluated.Surgeries were performed successfully without severe perioperative complications in all 8 patients. Median operating time was 150 minutes with a median estimated blood loss of 75 mL. Patients were discharged after a median of 8.5 postoperative days. Imaging studies at the first follow-up revealed varying extents of alleviation of hydronephrosis and 3 patients' urinary symptoms were gradually relieved after surgery. During a median follow-up of 48.5 months (range, 10-100 months), all patients exhibited excellent surgical outcomes without evidence of disease progression, except 1 patient who underwent radical cystectomy with Bricker ileal conduit surgery due to hydronephrosis recurrence in the 49th postoperative month.Based on these cases, pelvic fat mass extirpation and ureteral reimplantation is a safe and effective surgical treatment for PL.

Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome (SDS) is one of the more common inherited bone marrow failure syndromes, characterized by neutropenia, occasional thrombocytopenia, and anemia. Bone marrow evaluation reveals an increased number of monocytes and mature B cells along with decreased granulocytes. However, little is known about the subpopulations of peripheral blood cells, and few previous publications have been based on a small number of patients. Here, we report a comprehensive immunophenotypic analysis from a cohort of 37 SDS patients who display impairment mostly in the myeloid compartment with a deficiency also in the number of B cells and CD4/CD8 double-negative T cells.

Macropolycyte in Pediatrics.

Macropolycytes are tetraploid neutrophils produced during accelerated myelopoiesis. They have been reported in adults with pernicious anemia, sepsis, and after cytotoxic chemotherapy. Two pediatric cases are reported, one after granulocyte colony-stimulating factor treatment and the other following Kawasaki disease, respectively.

Nutritional status in children with Shwachman-diamond syndrome.

OBJECTIVE: In Shwachman-Diamond syndrome (SDS), pancreatic insufficiency can lead to malabsorption of fat-soluble vitamins and trace elements. The aim of this study was to assess the serum concentrations of vitamins A and E, zinc, copper, and selenium and their deficiencies. METHODS: This retrospective review was performed in 21 children (12 were male; median age, 7.8 years) with genetically confirmed SDS at a tertiary pediatric hospital. Pancreatic enzyme replacement therapy (PERT) and vitamin or trace elements supplements were documented. RESULTS: Twenty patients (95%) had pancreatic insufficiency receiving PERT, 10 (47%) had a combined vitamin and trace element deficiency, 6 (29%) had an isolated vitamin deficiency, and 4 (19%) had an isolated trace element deficiency. Vitamins A and E deficiency occurred in 16 (76%) and 4 (19%) of 21, respectively. Low serum selenium was found in 10 (47%), zinc deficiency in 7 (33%), and copper deficiency in 5 (24%). Eleven patients (52%) were on multivitamin supplementation, and 2 (10%) on zinc and selenium supplements. No statistical differences were found between repeated measurements for all micronutrients. CONCLUSIONS: More than 50% of the children had vitamin A and selenium deficiencies despite adequate supplementation of PERT and supplements. Micronutrients should be routinely measured in SDS patients to prevent significant complications.

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.

Patients with inherited bone marrow failure syndromes (IBMFS) have 'stress erythropoiesis', with anaemia, macrocytosis, increased fetal haemoglobin (Hb F) and high erythropoietin levels. In haemoglobinopathies, Hb F levels are regulated by 3 quantitative trait loci, HBS1L-MYB, BCL11A and Xmn1-HBG2. In our study of 97 patients with an IBMFS, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1-HBG2 [adjusted P = 0·04 for the total group, driven by Fanconi anaemia (P = 0·02) and dyskeratosis congenita (P = 0·09)]. Thus Hb F is regulated in IBMFS by Xmn1-HBG2, as it is in the haemoglobinopathies.

[Accumulated occurrence of lipomatosis in a cattle herd in Assiut (Egypt)]. / Gehäuftes Auftreten von Lipomatose in einer Rinderherde in Assiut (Agypten).

A total number of 30 native breed cows were used in this investigation. Ten animals were clinically healthy and kept as control, while 20 diseased cows were selected according to rectal findings. At the beginning of the disease, the cows appeared obese with marked deposition of fat in the subcutaneous tissue at the lumbosacral area, later on they became emaciated. Additional signs were digestive disturbance in form of diarrhea or constipation and tympany. Rectal examination revealed hard irregular masses of various size which were palpated in the pelvis, the perirenal area around the colon and the rectum. More information about the nature and character of the lesions were taken from slaughtered cows. Biochemical analysis, including total lipids, cholesterol triglycerides and creatine kinase, were carried out in both healthy and diseased cows. In advanced cases of bovine lipomatosis hyperlipemia and hypercholesterolemia as well as increased creatine kinase values were constant findings. The aetiology of this disease is still unknown.

Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis.

Clinical evaluation of 33 male patients affected by multiple symmetric lipomatosis has revealed a previously unreported high prevalence of somatic and autonomic neuropathies. In 84% of the patients, clinical examination revealed signs or symptoms of neural disturbances, ranging from a vibratory sensory loss to severely incapacitating trophic ulcers or Charcot's arthropathy. Electrodiagnostic investigations demonstrated a significant reduction of motor and sensory conduction velocity in the peroneal and sural nerves. Morphometric studies of nerve and muscle biopsies from five patients with multiple symmetric lipomatosis revealed a significant reduction in myelinated fiber density (4435 +/- 593 fibers/mm2 in MSL vs 7660 +/- 800 in controls; p less than 0.05), a selective reduction in the large fibers of 7 to 10 micron in diameter, and signs of chronic denervation-reinnervation processes. Bedside tests for autonomic neuropathy were abnormal in 15 of 20 patients studied. Metabolic studies in these patients confirmed a significant increase in plasma high-density lipoprotein fractions consistent with the diagnosis of hyperalphalipoproteinemia, and a significant reduction in plasma low-density lipoprotein fractions (hypobetalipoproteinemia) associated with a marked enhancement of lipoprotein lipase activity in adipose tissue. Thus, a metabolic factor has to be considered in the pathogenesis of MSL neuropathy.

Lipoprotein metabolism in patients with elevated lipoprotein-lipase activity in adipose tissue.

We have evaluated the relationships between adipose tissue lipoprotein-lipase activity (AT-LPL) or post-heparin plasma lipolytic activity (PHLA) and the composition of circulating lipoproteins in 7 patients with multiple symmetric lipomatosis (MSL). In addition we have investigated the behaviour of serum triglycerides after an oral fat load (1 g triglycerides/kg body weight) in 5 MSL patients and in 5 age and sex matched controls. We found significantly higher values of HDL, HDL2 and HDL3 cholesterol in MSL patients than in controls. Moreover, HDL2/HDL3 cholesterol ratio was higher in MSL patients than in controls, which indicate a predominant increase in HDL2 subfraction. The mean values of AT-LPL in lipomatous tissue was significantly higher than in control tissue. A positive statistically significant correlation was found between AT-LPL activity and HDL, HDL2 and HDL3 cholesterol values. After the fat load the maximal increments of serum triglyceride levels and the triglyceride areas over 8 and 12 h are lower in MSL patients than in controls; there was an inverse, statistically significant correlation between the total PHLA or the extrahepatic PHLA values and the triglyceride areas after lipid load. We conclude that MSL represents a useful naturally occurring model for the study of the role of AT-LPL in the metabolism of triglyceride-rich lipoproteins and in the clearance of lipoproteins in the post-prandial phase.

[Benign symmetric lipomatosis--symptom of alcoholic liver disease]. / Die benigne symmetrische Lipomatose--ein Symptom der äthylischen Hepatopathie.

Benign symmetric lipomatosis (BSL) leads to characteristic multiple lipomas of the neck and submandibullar region. Seven men with BSL, aged 36--65 years, were investigated with regard to alcohol consumption, clinical findings and liver histology. They admitted a long standing ethanol intake (x = 107 ml/day) prior to the development of BSL. The growth of the lipomas was irregular and occurred over a period of months. There was no correlation with overweight or hyperlipidemia. However, liver biopsy revealed features consistent with alcoholic liver disease in all subjects. It is concluded that BSL represents a symptom of alcoholic liver disease affecting middle aged men.