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1.
Int J Gynecol Pathol ; 35(1): 38-40, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26166723

ABSTRACT

A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. We conclude that glycogen storage disease Type IV can cause early miscarriage and that diagnosis can initially be made on histopathologic examination. Genetic analysis is required to confirm the diagnosis and to offer prenatal genetic testing in future pregnancies.


Subject(s)
Glycogen Debranching Enzyme System/genetics , Glycogen Storage Disease Type IV/diagnosis , Abortion, Spontaneous , Adult , DNA Mutational Analysis , Female , Genetic Testing , Glycogen Storage Disease Type IV/genetics , Humans , Mutation , Placenta/pathology , Pregnancy , Prenatal Diagnosis , Sequence Analysis, DNA
2.
Ugeskr Laeger ; 171(37): 2646-50, 2009 Sep 07.
Article in Danish | MEDLINE | ID: mdl-19758509

ABSTRACT

INTRODUCTION: The quality of the histological sections of gastrointestinal biopsies (GIB) affects the diagnostic possibilities. One aspect is the orientation of GIB, whereby sectioning perpendicular to the mucosal surface can be performed more readily. With the purpose to achieve correct orientation, GIB is occasionally mounted on millipore filter (MF) in an attempt to place the deep cut side onto the MF. The importance of this technique for section quality is evaluated in this study. MATERIAL AND METHOD: The material comprised three consecutive series of GIB (60 gastric, duodenal, and colorectal GIB, respectively). Sections were grouped in MF-mounted versus non-mounted GIB, the proportion of fully acceptable sections among mounted versus non-mounted GIB was recorded. RESULTS: 77.2% of all GIBs were MF-mounted. 33.1% of mounted GIBs versus 48.8% of non-mounted GIBs were assessed as fully acceptable sections. The differences between these figures are not statistically significant. 41.7% of the mounted GIBs were placed with the mucosal surface facing the MF, which entails a risk of damaging the tissue. CONCLUSION: MF-mounting of GIB did not contribute to section quality. Since the handling of such specimens by the pathology lab technicians resulted in extra workload, this technique cannot be recommended in routine diagnostic work-up, as judged from a pathologist"s point of view.


Subject(s)
Biopsy/methods , Gastric Mucosa/pathology , Gastrointestinal Diseases/pathology , Intestinal Mucosa/pathology , Specimen Handling/methods , Biopsy/standards , Colon/pathology , Duodenum/pathology , Humans , Micropore Filters , Rectum/pathology , Tissue Embedding
3.
Scand J Urol Nephrol ; 43(4): 331-3, 2009.
Article in English | MEDLINE | ID: mdl-19396724

ABSTRACT

Only a few cases of tuberculous epididymo-orchitis after bacillus Calmette-Guérin (BCG) therapy have been published. This report presents a case of granulomatous epididymo-orchitis after intravesical BCG therapy in a patient presenting with pain and unilateral swelling of the scrotal content. This complication should always be considered when a patient presents with these symptoms after BCG therapy. Isoniazid may be used as a first choice of treatment.


Subject(s)
BCG Vaccine/adverse effects , BCG Vaccine/therapeutic use , Carcinoma, Transitional Cell/drug therapy , Orchitis/chemically induced , Urinary Bladder Neoplasms/drug therapy , Aged , Combined Modality Therapy , Humans , Male , Orchitis/diagnosis
4.
Transfusion ; 48(4): 749-54, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18194390

ABSTRACT

BACKGROUND: Iron deficiency leading to low hemoglobin concentration (cHb) is a common problem for blood donors as well as for blood banks. A standardized protocol offering iron supplementation based on P-ferritin determination may help to reduce the problem and retain donors. STUDY DESIGN AND METHODS: This was a prospective study where 879 blood donors, presenting with cHb at or below the limit of acceptance for donation, were included. The predonation cHb result was read after donation. The donors received 50 iron tablets (JernC or Ferrochel, 100 or 25 mg elemental iron, respectively), and samples for P-ferritin, mean corpuscular volume, and control of cHb were secured. Based on a P-ferritin level of less than 60 microg per L, 20 iron tablets were offered after all following donations. RESULTS: Mean cHb was 7.6 mmol per L (122 g/L) and 8.2 mmol per L (132 g/L) in women and men, respectively. In 80 percent of the women and 48 percent of the men, iron stores were low (P-ferritin < or = 30 microg/L). In the donors returning once or twice, an increase in cHb and P-ferritin was seen. Fifteen donors were permanently deferred due to disease and 36 due to low cHb, but 2 years after the start of the study, 79 percent of the women and 85 percent of the men were still active donors. CONCLUSION: A standardized protocol offering iron supplementation and simple oral and written advice based on P-ferritin measurements is effective in normalizing cHb and retaining donors presenting with cHb at or below the limit of acceptance for donation.


Subject(s)
Blood Donors , Dietary Supplements , Hemoglobins/metabolism , Iron/administration & dosage , Female , Ferritins/blood , Humans , Male , Treatment Outcome
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