A boy with McCune-Albright syndrome associated with GH secreting pituitary microadenoma. Clinical findings and response to treatment

The McCune-Albright Syndrome (MAS) is a sporadic rare disease first described in 1936 by McCune and separately by Albright. MAS is characterized by a triad of physical signs: café-au-lait spots, polyostotic fibrous dysplasia and autonomous endocrine hyperfunction. MAS is predominantly observed in girls and is rarely reported in males. We report the case of a 9-year old boy with gonadotropin independent precocious puberty, café-au-lait spots, polyostotic fibrous dysplasia and growth hormone hypersecretion.     

A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness

OBJECTIVE

The m.3243A>G mutation in mitochondrial DNA (mtDNA) is responsible for maternally inherited diabetes and deafness (MIDD). Other mtDNA mutations are extremely rare.

RESEARCH DESIGN AND METHODS

We studied a patient presenting with diabetes and deafness who does not carry the m.3243A>G mutation.

RESULTS

We identified a deficiency of respiratory chain complex I in the patient’s fibroblasts. mtDNA sequencing revealed a novel mutation that corresponds to an insertion of one or two cytosine residues in the coding region of the MT-ND6 gene (m.14535_14536insC or CC), leading to premature stop codons. This heteroplasmic mutation is unstable in the patient’s somatic tissues.

CONCLUSIONS

We describe for the first time an unstable mutation in a mitochondrial gene coding for a complex I subunit, which is responsible for the MIDD phenotype. This mutation is likely favored by the m.14530T>C polymorphism, which is homoplasmic and leads to the formation of an 8-bp polyC tract responsible for genetic instability.The most common form of maternally inherited diabetes and deafness (MIDD) is associated with the m.3243A>G mutation in mitochondrial DNA (mtDNA), which is located in the tRNA^Leu gene (1). The mutation that affects up to 1% of diabetic patients leads to both impaired glucose-induced insulin secretion (2) and progressive β-cell loss (3). However, in some rare cases characterized by a highly suggestive phenotype but without m.3243A>G mutation, geneticists should look for other diabetes-prone variants (4). Here, we describe a patient presenting an MIDD phenotype who carries a novel unstable mutation in the mitochondrial MT-ND6 gene responsible for a deficiency in the respiratory chain complex I.     

Prediction of peak oxygen uptake from a maximal treadmill test in 12- to 18-year-old active male adolescents

The aims were to develop and validate a VO(2peak) prediction equation from a treadmill running test in active male adolescents. Eighty-eight athletes (12-18 yrs.) performed a maximal exercise test on a treadmill to assess the actual VO2peak and a 20m Shuttle-Run-Test (20mST). A step-wise linear regression analysis was used and the following equation for estimation of VO(2peak) (mL·kg?1·min?1) = 35.477 + 1.832 × duration in min - 0.010 × duration × body mass in kg was developed. The cross-validation statistics were: R = .54, CE = 0.1 mL·kg?1min?1, SEE = 2.5 mL·kg?1·min?1 (4.6%), and TE = 2.6 mL·kg?1·min?1 (4.9%). The cross-validation values (CE, SEE, and TE) were lower compared with those of previously published equations in adolescents that estimated VO(2peak) using anthropometric data, performance in 20mST, and energy cost at submaximal speeds.     

Downgrading BIRADS 3 to BIRADS 2 category using a computer-aided microcalcification analysis and risk assessment system for early breast cancer

This paper explores the potential of a computer-aided diagnosis system to discriminate the real benign microcalcifications among a specific subset of 109 patients with BIRADS 3 mammograms who had undergone biopsy, thus making it possible to downgrade them to BIRADS 2 category. The system detected and quantified critical features of microcalcifications and classified them on a risk percentage scale for malignancy. The system successfully detected all cancers. Nevertheless, it suggested biopsy for 11/15 atypical lesions. Finally, the system characterized as definitely benign (BIRADS 2) 29/88 benign lesions, previously assigned to BIRADS 3, and thus achieved a reduction of 33% in unnecessary biopsies.     

Comparison of two topical treatments for dentine sensitivity

This study compares two commercially-available products for treating dentine sensitivity, Duraphat, a fluoride varnish, and SuperSeal, an oxalate preparation. 48 patients with dentine sensitivity were recruited. Sensitivity was assessed by visual analogue scales (VAS) to record pain following stimulation of exposed dentine surfaces by tactile stimulus (sharp probe at 60g force), thermal stimulus (ethyl chloride) and evaporative stimulus (air drying). Patients were randomised to treatment with either Duraphat or SuperSeal. After 4 weeks, sensitivity assessments were repeated. Both treatments resulted in statistically significant reductions in VAS scores for all stimuli (P<0.05). However, analysis of covariance failed to identify statistically significant differences in the magnitude of reductions in sensitivity achieved by each of the products (P>0.05). The treatments had similar efficacy and both can be considered effective therapies for treating dentine sensitivity.     

Matching criteria in case-control studies in the field of antimicrobial resistance

OBJECTIVE: We evaluated the available evidence from case-control studies in the field of antimicrobial resistance to identify the degree that matching was performed and the criteria used to do so. METHODS: We performed a systematic search of the PubMed database (articles archived by 08/2006) to identify relevant studies. Studies that used the individual matching technique were further analyzed. RESULTS: 115 case-control studies with a focus on antimicrobial resistance were identified: 28 regarding Acinetobacter baumannii, 25 regarding Pseudomonas aeruginosa, and 62 for other bacteria. Individual matching was performed in 32 (27.8%) out of the 115 studies. Age was the most frequently used matching criterion in 22 of 32 (69%) evaluated matched case-control studies, while sex was used in 11 (34%), presence of underlying illness in 8 (25%), site of infection in 5 (16%), and area of residence in 4 studies (12.5%). Other criteria were used in less than 10% of the studies. Analysis of data for matched pairs was performed in 18 of 32 (56.3%) studies that used a matched case-control design. DISCUSSION: The available evidence from the analyzed data from case-control studies in the field of antimicrobial resistance shows that individual matching is employed only in a proportion of such studies and only for a few characteristics, when it was used. Also, analysis for matched pairs was not used by almost a half of the relevant studies.     

Delusional parasitosis: a rare cause of pruritus in hemodialysis patients

Uremic pruritus is a common symptom in patients undergoing hemodialysis (HD) or peritoneal dialysis, but its exact pathogenesis remains rather unclear. However, severe or "intractable" pruritus may be the manifestation of another underlying disease or disorder other than uremia. Delusional parasitosis, or Ekbom syndrome, is a rare psychiatric disorder characterized by the false conviction of being infested with parasites, and it can be primary, or secondary to several medical and psychiatric disorders. We report 2 elderly HD patients who presented one after another, with delusional parasitosis. At some point in time, the delusional beliefs of the first patient were adopted by the second patient who was waiting to start his HD session on the same bed and HD machine, on a subsequent shift. They were both diagnosed with Ekbom syndrome and described as having monosymptomatic hypochondriac delusion. They were both prescribed antipsychotic medications. During follow-up they admitted feeling better than before; however, they remained concerned about the "insects/parasites."