PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled ”Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis.” (Pediatr Transplant. 2006 Aug;10(5):629-31). Authors are Jaing TH, Hou JW, Chen SH et al., from the Division of Hematology/Oncology, Department of Pediatrics, Chang Gung University and Children’s Hospital, Taoyuan, Taiwan. Allogeneic hematopoietic stem cell transplantation represents the only curative option for malignant infantile osteopetrosis (MIOP), a rare disease of infants and young children, characterized by excessive accumulation of mineralized bone and abnormal hematopoiesis. The authors report a case of successful engraftment and stable full-donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT). A successful engraftment of donor hematopoiesis was demonstrated and the child experienced grade II acute graft vs. host disease (GVHD) involving the skin only. A remarkable but non-progressive decrease in lumbar spine bone mineral density was observed in the first nine months post-transplant. To access the full abstract of the article, click here.
Publications
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Primary aspergillosis of the sphenoid sinus with pituitary invasion – a rare differential diagnosis of sellar lesions.” Acta Neurochir (Wien). 2006 Jul 21). Authors are Pinzer T, Reiss M, Bourquain H et al, from the Klinik und Poliklinik fur Neurochirurgie, Universitatsklinikum Dresden, Dresden, Germany. Aspergillosis belongs to the group of mycotic diseases of paranasal sinuses. The invasive forms, and particularly the fulminant forms, are potentially fatal. Isolated aspergillosis of the sphenoid sinus or the clivus is a difficult diagnosis, since the often misleading clinical manifestations of this rare disease develop late. These patients become apparent by neurological signs such as cavernous sinus syndrome, pseudotumor of the pituitary or the orbit. Diagnosis is often made intra-operatively or on histological examination.The authors report a case of invasive aspergillosis uniquely involving the sellar area revealed by clinical features suggesting a pseudotumor of the pituitary. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Management of congenital tracheomalacia: a single institution experience” (Cir Pediatr. 2006 Apr;19(2):55-60). Authors are Anton-Pacheco JL, Cano I, Garcia A еt al, from the Servicio de Cirugia Pediatrica, Hospital Universitario, Madrid, Spain. Congenital tracheomalacia (CTM) is a rare disease causing tracheal wall collapse when breathing. The authors show their experience in the management of this type of airway anomaly, settling the indications for surgical or endoscopic treatment. A retrospective study have been performed, from 1991 to 2003, of patients with a bronchoscopic diagnosis of CTM or bronchomalacia (BM). The following facts have been analyzed: sex, age, indication of the initial bronchoscopy, ethiology, clinical group, anatomic type, associated malformations, treatment modality, complications, results, and time of follow-up. The conclusions are that most patients with CTM can be treated conservatively though spontaneous resolution may he expected after the first year of life. Surgical or endoscopical procedures are indicated in those patients with severe respiratory symptoms. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Inflammatory pseudotumor: a rare cause of proximal bronchial obstruction.” (Rev Pneumol Clin. 2006 Jun;62(3):183-6 ). Authors are Benothman H, Benhenneda R, Amade W et all, from the Service de Pneumologie, Clinique Medicale MGEN 1, Maisons-Laffitte, France. Inflammatory pseudotumor of the lung is a rare disease with usual benign course. The authors report the case of a 67-year-old woman with atelectasis of the left lung related to an endobronchial inflammatory pseudotumor. After laser resection, relapse occurred 3 months later, requiring surgical treatment. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Mastocytosis and Hymenoptera venom allergy” (Curr Opin Allergy Clin Immunol. 2006 Aug;6(4):284-8). Authors are Rueff f, Placzek M and Przybilla B, from the Department of Dermatology and Allergology, Ludwig-Maximilians University, Munich, Germany. Mastocytosis is a rare disease characterized by increased mast cells in skin and/or internal organs. The authors evaluate the impact of mastocytosis on diagnosis and treatment of Hymenoptera venom allergy. The conclusions are that the patients suffering from mastocytosis and Hymenoptera venom allergy are at risk from a particularly severe sting anaphylaxis. They need optimal diagnosis and treatment. In patients presenting with Hymenoptera venom allergy, screening tests by measurement of serum tryptase concentration, and a careful skin examination, are highly recommended. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Complete familial Currarino triad in association with Hirschsprung’s disease: magnetic resonance imaging features and the spectrum of anorectal malformations.” (Acta Radiol. 2006 May;47(4):422-6). Authors are Kilickesmez O, Gol IH, Uzun M еt al., from the Department of Radiology, Diyarbakir Military Hospital, Turkey. Currarino syndrome, a rare hereditary condition, is defined as a partial sacral agenesis associated with a presacral mass and anorectal malformation. The authors present two siblings with complete Currarino triad and their mother with incomplete triad. The complete Currarino triad in the older sibling was associated with Hirschsprung’s disease as the second reported case in the literature. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Surgery in children with hydatid disease of the spleen” (J Pediatr Surg. 2006 Jul;41(7):1264-6 ). Authors are Kalinova K, Stefanova P and Bosheva M from the Department of General and Pediatric Surgery, High Medical School, Stara Zagora, Bulgaria. Hydatid disease of the spleen is a rare disease, and it occurs in 1% to 8% of all children with hydatid disease. From 1985 to 2004, in 152 children with hydatid disease, a splenectomy was performed in 14 cases, and a cystectomy was possible in only 1 case. Patients with combined forms successfully underwent different variations of cystectomy. Splenic involvement of hydatid disease has no specific clinical manifestation, the diagnosis is late and often leads to splenectomy. It has to be suspected in a patient with a splenic cyst and has to be confirmed by ultrasonography and/or computed tomography, magnetic resonance imaging, and immunologic tests. The early diagnosis is a good precondition for better results. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Anderson-Fabry disease” (Acta Med Croatica. 2006;60(1):55-8). Authors are Kes P, Basic-Jukic N, Brunetta B et al., from the Zavod za dijalizu, Klinicki bolnicki centar Zagreb, Hrvatska. Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. The deficiency of alpha-galactosidase activity leads to progressive, abnormal accumulation of neutral glycosphingolipids in the lysosome. With increasing age globotriaosylceramide (Gb3) progressively accumulates in different cells, tissues and organs throughout the body. The overall prevalence of Anderson-Fabry disease is 1:117.000 or 1: 40.000 in (male) population. Typically, the clinical onset of Anderson-Fabry disease occurs during childhood or adolescence, with early symptoms of neuropathic pain (recurrent episodes of severe pain in the extremities), angiokeratomas (characteristic cutaneous lesions), oedematous upper eyelids, peripheral vasospasm and ophthalmological abnormalities. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Bladder carcinoma and HIV infection during the highly active antiretroviral therapy era: A rare, but intriguing association.” (Scand J Infect Dis. 2006 Jul;38(6):566-570 ). Authors are Manfredi R, Sabbatini S, Calza l et al., from the Department of Clinical and Experimental Medicine, Division of Infectious Diseases, University of Bologna ‘Alma Mater Studiorum’, Italy. Two very rare case reports of bladder transitional cell carcinoma associated with HIV infection in patients treated with combined antiretroviral therapy are described, and discussed on the ground of the most relevant and updated literature resources. In those two patients, micro- or macro- haematuria was the clue for in-depth diagnosis and prompt treatment, which was limited to multiple local interventions in 1 case, but finally required a radical cystectomy in the second patient. No relationship was found with the very favourable underlying HIV-related virological and immunological status, and the present 8-12-month follow-up did not show disease relapses. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Malignant peripheral nerve sheath tumor of breast in patient without Von Recklinghausen’s neurofibromatosis: a case report.” (J Med Assoc Thai. 2006 Mar;89(3):377-9). Authors are Thanapaisal C, Koonmee S and Siritunyaporn S from the Department of Surgery, Faculty of Medicine, Khon Kaen University, Thailand. Malignant peripheral nerve sheath tumor (MPNST) of the breast without Von Recklinghausen’s neurofibromatosis (VRN) is extremely rare. The authors report a 19 year-old woman who presented with a 12 month history of a painless mass of the left breast. Tissue biopsy was performed. The histologic diagnosis was made with immunohistochemical study. The patient was referred for radiation therapy after simple mastectomy. To access the full abstract of the article, click here.