Alopecia universalis as a single abnormality in an inbred Pakistani kindred

A Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele. © 1993 Wiley-Liss, Inc.     

Fine-needle aspiration biopsy of tibial adamantinoma: a case report

Adamantinoma of long bones is a rare, primary bone tumor of controversial histogenesis, usually arising in the anterior midshaft of the tibia. This slowly growing, radiolucent, expansile tumor eventually causes thinning or destruction of overlying cortical bone. Fine-needle aspiration biopsy (FNAB) is a rapid, safe, and relatively painless means of obtaining diagnostic material from bone tumors, provided the mass has eroded through or markedly attenuated the overlying cortex. A case is presented of primary adamantinoma of the tibia which was sampled first by FNAB and subsequently by surgical biopsy.     

Fine-needle aspiration biopsy of the pancreas: a study of 61 cases

Eighty-six fine-needle aspirates (FNAs) of pancreas from 74 patients were reviewed. Histological confirmation or clinical follow-up of the final diagnosis was available in 61 aspirates from 49 patients. Of 42 proven malignant cases, FNAs were diagnosed as positive in 21 (50%), suspicious in 4 (9.5%), negative in 12 (28.6%), and unsatisfactory in 5 (11.9%). Of 19 proven benign cases, FNAs were diagnosed as negative in 15 (78.9%) and unsatisfactory in 4 (21%). This resulted in a 50% sensitivity, a 100% specificity, a diagnostic efficiency of 59%, a predictive value of a positive test of 100%, and a predictive value of a negative test of 55.6%. Thirty-six primary pancreatic adenocarcinomas and six metastatic tumors to the pancreas were encountered. Benign cases were attributed to anatomical pancreatic variants, acute pancreatitis, abscess, chronic pancreatitis, and pseudocysts. Pancreatic FNA was safe, accurate, and relatively inexpensive, but it was relatively insensitive in the diagnosis of malignancy.     

Diagnostic value of DNA flow cytometry combined with fine needle aspiration biopsy in lymphomas

The nuclear DNA content of cells from 45 malignant lymphomas and from 60 benign lymph nodes obtained by fine needle aspiration was analysed to investigate the diagnostic value of DNA flow cytometry combined with routine diagnostic cytology in lymphomas. DNA aneuploidy was found in 43 per cent of lymphomas of high grade malignancy (NCI Working Formulation) but only rarely in lymphomas of intermediate- or low-grade malignancy or in Hodgkin's disease, and never in benign lymph nodes. The median percentage of proliferative cells (S + G2/M) was 22.6 per cent in diploid high-grade lymphomas, 15.3 per cent in intermediate-, and 8.1 per cent in low-grade lymphomas, as compared with 4.9 per cent in benign lymph nodes (P less than 0.0001). If the presence of DNA aneuploidy or more than 12 per cent of proliferative cells is used as a criterion for malignancy, the diagnostic accuracy of DNA flow cytometry in detecting lymphoma is 81 per cent. DNA flow cytometry suggested correct diagnosis in 10 of the 19 false positive, false negative, or indeterminate cytological findings encountered during the study. It is concluded that DNA flow cytometry combined with fine needle aspiration biopsy has diagnostic value in lymphomas, but false negative results are common especially in low-grade lymphomas; the method should therefore be used in conjunction with light microscopy.     

Recommendations for the examination of peripheral nerve biopsies

 Peripheral nerve biopsy is now an established, valuable investigative procedure, but as it can give rise to significant residual symptoms it should only be undertaken after careful consideration of the indications and with informed consent from the patient. Nerve biopsies should only be processed and evaluated in a laboratory with the relevant particular expertise. It is generally recommended that a sural nerve biopsy be performed in combination with a muscle biopsy but not vice versa (muscle biopsies together with a nerve biopsy). Nerve biopsy is not the only means of sampling peripheral nerve tissue to study the peripheral nervous system. Examination of the innervation of the skin may be informative. The same is likely to be true for motor point muscle biopsy. Nerve biopsy is mainly used for morphology although molecular genetic techniques using fresh or archival nerve biopsies are increasingly available. Chemical analysis is undertaken mainly for research purposes. Received: 10 June 1997 / Accepted: 29 October 1997     

Integrins and adhesion molecules: Reliability and accuracy of polymerase chain reaction amplification of two unique target sequences from biopsies of cleavage-stage and blastocyst-stage human embryos

Human embryos have been biopsied at either the cleavage or theblastocyst stage of development. One to two blastomeres wereremoved from cleavage-stage embryos and 2–6 cells fromblastocysts. The biopsy specimens were subjected to gene amplificationby the polymerase chain reaction (PCR) and a comparison madeof amplification efficiencies of two unique target sequences,one located within the -globin gene and containing the sickle-celllocus and the other a polymorphic dinucleotide repeat. Whenthe cleavage-stage biopsy sample consisted of an intact blastomerewith a clearly discernible nucleus, an amplification efficiencyof 89% was achieved for each target locus. This was similarto that achieved with cleavage-stage biopsy samples consistingof two blastomeres or with blastocyst biopsy samples consistingof 2–3 trophectoderm cells. When biopsy samples consistedof four or more trophectoderm cells, both target loci were amplifiedin all samples tested. When the biopsy sample was heterozygousat the dinucleotide repeat locus and the biopsy consisted ofone or more intact cells with a clearly discernible nucleus,both alleles were amplified in >80% of biopsy samples. Whenfour or more trophectoderm cells were used for the PCR, bothalleles were amplified in all heterozygous samples. Target sequenceswere never amplified from biopsy samples which lysed prior totransfer into the reaction tube. Analysis of DNA fragments amplifiedfrom the dinucleotide repeat locus indicated that in most casesfaithful amplification of biopsy DNA template had taken place.However, in one case, fragments were identified which couldnot have resulted from the amplification of embryonic sequencesalone, indicating that contamination with extraneous DNA mayhave taken place. The significance of this finding for therapeuticpreimplantation genetic diagnosis is discussed.     

Diagnostische Bedeutung von Muskelbiopsien bei metabolischen Myopathien

Summary In the diagnosis of metabolic myopathies the use of biochemical methods, in addition to morphological examination of muscle biopsies, is often necessary in order to identify a specific metabolic defect. In order to narrow down the spectrum of biochemical methods, extensive clinical investigation and morphological examination, including histology, enzyme histochemistry and electromicroscopy if necessary have to be done beforehand. Patients are classified in the following groups: 1) progressive muscular weakness and/or muscle wasting with storage of a) glycogen, b) lipid or c) mitochondrial alterations; 2) recurrent rhabdomyolysis induced by fasting or exercise a) with glycogen storage or b) without any specific morphological alterations. The spectrum of metabolic defects comprises disorders of glycogen and glucose metabolism (deficiency of acid maltase, debranching and branching enzyme, phosphorylase, phosphofructokinase and other glycolytic enzymes), lipid metabolism (carnitine deficiency, carnitine palmitoyl transferase deficiency), mitochondria (respiratory chain disorders, pyruvate dehydrogenase deficiency) and others such as adenylate deaminase deficiency. In some of these e.g. infantile acid maltase deficiency and mitochondriopathies, it is clinically more important when organs other than muscle are affected; however, muscle biopsy is a useful substrate for diagnosis of these metabolic disorders.

Mit Unterstützung durch die DFG und die Friedrich Baur Stiftung, München     

Increased collagen around deformed finger nailfold capillaries in type I diabetes mellitus

Summary Quantitative finger nailfold capillary microscopy was performed in 25 patients with type I diabetes and in 27 healthy control subjects. In the last consecutive 6 patients and 7 controls of these populations, finger nailfold biopsies were taken. Measurements of loop width as an in vivo parameter for deformities of the capillary loops showed significantly higher values in diabetic patients than in controls. Histopathological examination showed markedly and significantly increased deposition of collagen in nailfold dermal papillae of the diabetic patients. The deposition of collagen was positively correlated with the number of capillary endothelial cells in the nailfold dermal papillae and with the size of the papillae in diabetic patients. It is concluded that, in addition to deformity of nailfold capillaries, collagen deposition may also be a sign of metabolic disturbance and perhaps of proliferation of capillary endothelial cells in diabetic microangiopathy.Supported by the Swiss National Fund for Scientific Research, grant number 3.904-0.86     

Psammoma bodies and optically clear nuclei in bronchiolo-alveolar cell carcinoma. Diagnosis by fine needle aspiration biopsy with histologic and ultrastructural confirmation

The fine needle aspiration cytology of two cases of bronchiolo-alveolar cell carcinoma of the lung having unusual features is reported. One case demonstrated numerous psammoma bodies in the cytologic smears, whereas the other case showed an abundance of cells with optically clear nuclei. Both peripherally located tumors were resected and confirmed as primary bronchiolo-alveolar cell carcinoma by histologic and ultrastructural examination. We believe this to be the first report describing these unusual features of bronchiolo-alveolar cell carcinoma diagnosed by fine needle aspiration cytology. Presented is a discussion of psammoma bodies and optically clear nuclei seen in primary and metastatic tumors of the lung. This will aid in the diagnosis of these cases.     

Relationships between muscle lactate accumulation and surface EMG activities during isokinetic contractions in man

Summary In order to investigate the relationship between metabolic state and myoelectrical activity in working muscle during short term intense exercise, eleven healthy males performed isokinetic knee extensions at an angular velocity of 180 deg · sec^–1 for 30 and 60 s. The median frequency (MF) of the surface electromyogram (EMG) recorded from vastus lateralis was decreased while the time lag of torque production after the onset of electrical activity (EMD) was increased during exercise. These changes (MF and EMD) corresponded well to muscle lactate accumulation in the same muscle. Over the exercise period, the integrated EMG/knee extension peak torque ratio (E/T ratio) was increased, which indicated a decrease in the efficiency of electrical activity. It was concluded that the changes in the frequency components of the EMG and in the contractile property of the muscle during short term intense exercise correlated with lactate accumulation in the identical muscle, and that the decrease in efficiency of the electrical activity in the muscle suggested peripheral fatigue.