Hereditary Folate Malabsorption presenting as neutropenic fever in a newborn from the first Palestinian family with the novel SLC46A1-mutation, A-case-report.

Introduction and importance: Hereditary Folate Malabsorption (HFM) is an extremely rare autosomal recessive disorder with in the existence of only 30 families world-wide. It presents with hematological, gastrointestinal, and neurological problems. Case presentation: Three-month-old-boy with a familial history of HFM presented to the clinic due to persistent fatigue, yellowish discoloration, feeding refusal, and pancytopenia. The patient received 3 packs of Red Blood Cells (RBCs). Five days after received 3 packs of RBCs, the patient presented with a fever of 38.3 Celsius with pancytopenia. The patient had low level of all immunoglobulins. He was started on broad-spectrum antibiotics. Testing for the HFM's SLC46A1 gene mutation, was positive. The patient was started on Leucovorin and Respirm. Clinical discussion: In this case, HFM presented as a neutropenic fever, hypoimmunoglobulinemia, low serum folate, elevated homocysteine, and a positive mutation on the SLC46A1. HFM has a wide-spectrum of presentations which includes hematological, neurological, immunological and gastrointestinal. Treatment involves the administration of folinic acid in either oral or intramuscular injections. Conclusion: HFM can present as neutropenic fever. High index of suspension is to be maintained when the presenting symptoms of the patients vary over a large number of systems. Genetic counseling is needed for parents when both are carrying an autosomal recessive allele.

Systemic Effects of Cryolipolysis in Central Obese Women: A Randomized Controlled Trial.

BACKGROUND AND OBJECTIVES: To investigate the adding effect of Cryolipolysis to a low-calorie diet program on lipid profile, liver enzymes, body mass index, waist-to-hip ratio, and volume reduction of subcutaneous fat tissue in central obese women. STUDY DESIGN/MATERIALS AND METHODS: Sixty central obese women were randomly divided into two equal groups. Women in the control group received prescribed low-calorie diet regimen only, while women in the study group received three Cryolipolysis sessions plus the same dietary regimen for 3 months. Assessment of women in each group for weight, height to obtain the body mass index, waist-to-hip ratio, and abdominal subcutaneous fat thickness as well as evaluation of lipid profile and liver enzymes was done just before starting the treatment procedures and immediately after ending the study duration. RESULTS: There were statistically significant improvements of waist-to-hip ratio, body mass index, total cholesterol, triglycerides, low- and high-density lipoprotein, as well as liver enzymes in favor of the study group (P < 0.001). CONCLUSION: Women who underwent Cryolipolysis and diet program had better improvement in components of lipid profile and liver enzymes than women who were maintained over diet program alone. Measures to decrease waist circumference, associated with abdominal subcutaneous fat reduction, enhanced the systemic effects of Cryolipolysis. Lasers Surg. Med. © 2020 Wiley Periodicals, Inc.

Unexplained plexogenic pulmonary arteriopathy: an unusual rapidly progressive case in childhood.

A 4-year-old child died because of unexplained plexogenic arteriopathy only seven months after the onset of the symptoms. Cardiac catheterization revealed a primary pulmonary hypertension sensible to nifedipine, but after the initial favourable results the clinical course rapidly went down and the child died from right sided congestive heart failure. The post-mortem pulmonary histology revealed reversible structural abnormalities. It also demonstrates that the vasodilatator drugs are effective only for short time in primary pulmonary hypertension, and moreover that it is even hazardous to generalize when one talks about reversibility of such lesions in each case.

Mineral particles in the lungs of subjects resident in the Rome area and not occupationally exposed to mineral dust.

We studied the inorganic particulate contained in the lung parenchyma of 10 subjects (5 males and 5 females) resident in an urban area and not occupationally exposed to dusts. A total of 17 mineral types were identified, along with 16 metal elements in the form of oxides and sulfides. Approximately 70% of the minerals were made up of phyllosilicates, in particular clay, mica, and talc; three metal elements, Fe, Al, and Ti, accounted for more than 75% of the recovered oxide particles. The mean concentration of the observed inorganic particles was approximately 1.8 X 10(5) pp/mg dry tissue. No significant differences were observed in terms of total particulate concentration in the various areas of the lungs and between the right and left lung. Instead we observed a larger concentration of fibrous particles in the upper lobes. The analysis of the data made it possible to determine the presence of a high degree of correlation between the concentrations of silicates and the concentrations of metal oxides and sulfides, implying the existence of a ubiquitous environmental source of these mineral particles. The frequent observation of tremolite fibers is remarkable. This finding, confirmed elsewhere, indicates that the magnitude of the sources of these fibers in the environment, constituted by contaminated talc dusts, has been underestimated until today.

Copper and hepatocellular carcinoma.

The presence of copper and copper-binding protein (CBP) within tumor cells was searched by histochemical methods (rhodanine, rubeanic acid and Shikata's orcein) in a group of 39 autopsies, all consecutive cases of hepatocellular carcinoma (HCC) associated with cirrhosis (HCC + C). In 2 cases, fibrolamellar carcinoma (FLC) not associated with cirrhosis was observed at surgery. Considerable amounts of copper and CBP were found within tumor cells only in the 2 FLC cases and in 1 HCC + C case, in a portion of the tumor showing FLC-like features. Copper-positive tumor cells had an oncocytic appearance, which was confirmed by ultrastructural examination. In 64% of the HCC + C cases (25 out of 39), copper and CBP deposits were found in nonneoplastic hepatocytes mainly distributed along the periphery of cirrhotic nodules. The present study indicates that the storage of copper inside tumor cells is a peculiarity of the FLC type of HCC with a close relationship to the oncocytic nature of neoplastic hepatocytes. The significance of copper deposits in nonneoplastic cirrhotic hepatocytes remains a matter for further investigations.

Congenital epulis: an ultrastructural and immunohistochemical study.

In the light of recent findings concerning the presence of S-100 antigen in granular cell myoblastoma (GCM), we investigated by immunoperoxidase the presence of this antigen in a case of congenital epulis (CE). The absence of S-100 in CE granular cells is suggestive for antigenic differences with GCM. Upon ultrastructural investigation, bundles of collagen fibers were observed in the cytoplasm of CE granular cells and cells displaying features of initial cytoplasmic vacuolar transformation were also detected. Interstitial cells containing angulated bodies, a common finding in GCM, were not found.

Pseudolymphoma of the lung: lymphoid subsets in the lung mass and in peripheral blood.

Studies of the lymphocyte markers in a case of pseudolymphoma of the lung indicate a non-neoplastic nature of the lymphoid infiltrate. The relative proportions of T and B cells and of the markers for the various subsets of both populations reflect the morphologically mixed character of the cellular infiltrate of the lung mass. Moreover, an imbalance of T cell subsets was observed in the peripheral blood: the numbers of T cells with receptors for IgM (TM) were persistently decreased while an increase of the values of T lymphocytes with receptors for IgG (TG) was noted. In addition an altered immunologic status of the patient was indicated by the in vivo impairment of cellular immunity as demonstrated by the failure to respond to common antigens and to become sensitized to 1-chloro-2,4-dinitrobenzene (DNBC).

HBs Ag and hepatocellular carcinoma associated with cirrhosis.--A retrospective study based on autopsy.

Histologic specimens of liver tissue from 33 consecutive cases of hepatocellular carcinoma (HCC) associated with cirrhosis, were stained with hematoxylin-eosin and with orcein for the presence of HBs Ag in the cytoplasm of cells. Such a study showed orcein-positive liver cells in 7 out of 33 (21.2%) cases of HCC associated with cirrhosis. The clinical course and laboratory examinations of the 33 patients were also reviewed and revealed a significant difference between the length of survival of orcein-positive patients and orcein-negative ones. Therefore, these results seem to support the hypothesis that HBs Ag may play a role not only in the development of HCC associated with cirrhosis, but also in a more rapid and severe course of neoplasia.

Lymphocyte subpopulations in non-neoplastic thymus from myasthenia gravis patients.

Lymphocyte populations in non-neoplastic thymuses from fifteen patients with myasthenia gravis (MG) were examined. As in normal subjects, the great majority of thymic lymphocytes of MG patients are T cells. When MG thymuses were compared to normal glands, lower percentages of lymphocytes able to form E rosettes resistant to incubation at 37 degrees C (stable E rosettes) were found in MG thymuses. A negligible B cell content was detected in eight normal and in eight MG thymuses with absent or rare lymph follicles; but there was a substantial B cell presence in the thymuses of seven MG cases with thymic hyperplasia containing many germinal centres. Normal and MG thymuses contain the same percentage of lymphocytes bearing receptors for the Fc portion of IgM (TM). Moreover, the IgM Fc receptor was found mostly on cells which did not form stable E rosettes and did not bear surface immunoglobulin. The possible significance of these findings is discussed.

Subpopulations of lymphocytes in human thymomas.

Lymphocyte populations in six normal thymuses and ten thymomas were examined. The majority of lymphocytes from both thymus and thymoma differ from peripheral T lymphocytes in their capacity to form E-rosettes resistant to incubation at 37 degrees C. Low percentages of T lymphocytes bearing receptors for the Fc portion of IgG (TG) and IgM (TM) were found in normal thymus. In contrast, lymphocytes from five out of nine thymomas showed remarkable percentages of TM cells. Compared with normal thymocytes, lymphocytes from seven out of ten thymomas responded vigorously to mitogens. The possible origin and nature of thymoma lymphocytes are discussed.

[Ultrastructural study of the activity of phospholipids in experimental liver damage induced by isoniazide]. / Studio ultrastrutturale sul'attività dei fosfolipidi nelle lesioni epatiche sperimentali indotte da isoniazide

The authors studied the activity of egg-derived phospholipids on the hepatotoxic effect induced in rats by isoniazid (INH) given orally for 20 consecutive days in doses of 25, 50 and 100 mg/kg/day. In the animals treated with the highest dose of INH, a great number of liver cells showed structural and ultrastructural changes. Their hyaloplasm was more electron-dense, the cytoplasmic structure was condensed and collapsed, without apparent endoplasmic reticulum and ribosomes. A very different structural and ultrastructural picture was observed in the animals treated with INH + phospholipids. The structure was quite normal without degenerating cells. There was a greater richness of endoplasmic reticulum, ribosomes and glycogen particles.