Severe dopaminergic pathways damage in a case of chronic toluene abuse

Introduction

Toluene toxicity primarily affects central nervous system white matter, causing a characteristic brain MRI pattern.

Case report

A toluene addicted man, after an abstinence period and a treatment with neuroleptics, presented with severe worsening of preexisting generalized tremor, opsoclonus, dysarthria, gait inability, jerky tendon reflexes and behaviour disorders. Magnetic resonance imaging showed mild leukoencephalopathy and hypointensities in deep gray matter nuclei. The DaT-scan revealed a decrease in presynaptic dopamine reuptake.

Conclusion

Clinical and neuroradiological findings and the possible sensitivity to neuroleptics indicate dopaminergic impairment. Our case suggests that chronic toluene abuse causes presynaptic dopaminergic depletion.     

XbaI GLUT1 Gene Polymorphism and the Risk of Type 2 Diabetes with Nephropathy

Altered expression of the facilitated glucose transporter GLUT1 affects pathways implicated in the pathogenesis of diabetic nephropathy. There is indication that variation of GLUT1 gene (SLC2A1) contributes to development of microangiopathy in diabetes mellitus type 2 (DM) patients. A genetic association study involving Caucasians was carried out to investigate the role of XbαI polymorphism in the GLUT1 gene in diabetic nephropathy (DN). Study population (n = 240) consisted of 148 unrelated patients with DM (92 cases with diabetic nephropathy (DN)), and of 92 matched healthy control subjects. Diabetic nephropathy was defined as persistent albuminuria (> 300 mg/24 h) and/or renal failure, in the absence of non-diabetes induced renal disease. The analysis showed that the risk of developing DM and DN in XbaI(−) carriers, when healthy individuals were considered as controls, was two-fold: odds ratio (OR) 2.08 [95% confidence interval (1.14–3.79)]. However, there was no evidence of association between XbaI(−) and DN when patients with DM and without DN were considered as controls: OR = 1.12 (0.55–2.26). Thus, the GLUT1 XbaI(−) allele is associated with DM, and possibly with a more severe form of the disease that can lead to development of DN.     

The 12-in-1 procedure for the treatment of congenital idiopathic clubfoot

The purpose of this study was to assess the long-term results of an extended soft tissue release in a single procedure, for the treatment of congenital idiopathic clubfoot. Seventeen patients with 22 congenital idiopathic clubfeet were treated surgically with the 12-in-1 procedure. The majority of cases were grade III (severe) deformities. The procedure consisted of dividing or lengthening 12 elements of the posterior, medial, and plantar side of the foot. The mean follow-up period was 11 years (range, 7-18 years). Revision surgery was required within 1 to 3.5 years of the initial procedure in four cases (residual deformity), whereas in another patient, bilateral camptodactyly was corrected 11 years postoperatively. At the time of the most recent follow-up, and after the revision procedures in patients with residual or recurrent deformities, results were excellent in 8 and good in 14 cases. The long-term follow-up results of the 12-in-1 procedure are encouraging for the treatment of idiopathic congenital clubfoot.     

Prosthetic valve endocarditis due to Acinetobacter spp: a rare case and literature review

A rare case of prosthetic valve endocarditis from Acinetobacter spp occurring 9 months postoperatively is described. The patient initially received empirical therapy against pathogens commonly associated with prosthetic valve endocarditis, but his condition did not improve. Identification of bacteremia due to Acinetobacter spp was not attributed to any of the classic nosocomial factors such as presence of a catheter or a recent invasive procedure. The patient did well with an intravenous regimen of meropenem and tobramycin instituted according to susceptibility testing. Physicians should be aware of this rare association of a nosocomial pathogen such as Acinetobacter spp with prosthetic valve endocarditis occurring long after the initial cardiothoracic procedure.     

Dementia as presenting symptom of primary hyperparathyroidism: favourable outcome after surgery

The case of a 76-year-old female patient is presented with a two-year history of progressive dementia, apathy and gait impairment. Initially, Alzheimer's disease was diagnosed and she was given donepezil for one year with no significant improvement. An extensive blood and biochemical control revealed high serum calcium and parathormone levels, and normal thyroid hormones and anti-thyroid antibodies. Ultrasound of thyroid and parathyroid glands revealed an adenoma of the right parathyroid. The detailed investigation for causes of secondary hyperparathyroidism was negative. Due to the absence of clinical hyperparathyroidism she was initially treated conservatively. At referral, the neurological picture consisted of: mild signs of parkinsonism, moderate dementia (MMSE=15) and severe behavioural disturbances. Because of the continuous aggravation of the cognitive deficit, parathyroidectomy was decided although there were no clinical or laboratory signs of involvement from other organs. Three weeks after the operation the neurological picture showed dramatical improvement. Parkinsonism and behavioural disorders were remarkably reduced and the MMSE score raised to 25. In summary we report an exceptional case of primary hyperparathyroidism (PHPT) presenting as dementia and treated successfully by parathyroidectomy.     

Compartmental infections of the hand.

Suppurative conditions of the hand-wrist compartments result in a "vicious circle" of infection and increase in compartmental pressure that reduces perfusion of soft tissues and facilitates spreading of the infection. We have assessed the outcome of such infections in relation to the infecting pathogen, delay in diagnosis, and method of treatment. Fifty-nine patients were treated with drainage, irrigation, and antibiotics and followed up for 6-58 (median 18) months. Staphylococcus aureus was detected in 29 of 39 cultures (74%) that grew pathogens. At the latest follow-up results were excellent in 49 cases. Sixteen required reoperation or readmission. There was a significant association between final range of movement (ROM) and extent of infection (p=0.01). The type of pathogen was also significantly associated with a worse outcome (p=0.03 for ROM, p=0.04 for DASH). These infections have poor results when treatment is delayed or inadequate, as a result of the extended infection, inadequate drainage or inappropriate antibiotic treatment of certain types of bacteria.     

The risk of poor ovarian response during repeat IVF

Research questionWhat are the incidence and risk factors for poor ovarian response (POR) during repeat IVF?DesignA retrospective analysis of 1224 consecutive patients who underwent at least two IVF stimulations in a single centre over a 6-year period. Risk factors from the initial treatment were assessed for association with POR during repeat IVF using logistic regression analysis. A simple, practical predictive model was constructed and evaluated for accuracy and calibration, based on the factors that demonstrated significant association with subsequent POR. POR during repeat IVF was defined as ≤3 retrieved oocytes or cancellation before retrieval following recruitment of ≤3 mature follicles.ResultsThe risk of POR during repeat IVF was approximately 11.5%. A higher POR risk during repeat IVF is associated with a reduced oocyte yield during the initial treatment (≤3 oocytes: odds ratio [OR] 14, 95% confidence interval [CI] 6.42–30.24; 4–9 oocytes: OR 4.13, 95% CI 2.00–8.54; 10–15 oocytes: OR 1) and low ovarian reserve (anti-Müllerian hormone [AMH] <5.4 pmol/l: OR 3.54, 95% CI 2.24–5.59; AMH 5.4–25 pmol/l: OR 1). Women with low ovarian reserve who experience POR during the initial IVF have the highest risk of suffering POR again during repeat IVF (57% within 1 year). Other groups, such as women with unexpected POR or expected poor responders with suboptimal ovarian response during the initial IVF, are also at risk of exhibiting POR during a subsequent treatment (28% within 1 year).ConclusionsAs there is a clear association between POR and lower live birth rates, this practical model may help manage patients’ expectations during repeat IVF treatment.