Fahr’s disease or Fahr’s syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus. Molecular genetics of this disease haven’t been studied extensively; hence evidence at the molecular and genetic level is limited. Fahr’s disease commonly affects young to middle aged adults. Etiology of this syndrome does not identify a specific agent but associations with a number of conditions have been noted; most common of which are endocrine disorders, mitochondrial myopathies, dermatological abnormalities and infectious diseases. Clinical manifestations of this disease incorporate a wide variety of symptoms, ranging from neurological symptoms of extrapyramidal system to neuropsychiatric abnormalities of memory and concentration to movement disorders including Parkinsonism, chorea and tremors amongst others. Diagnostic criteria for this disease has been formulated after modifications from previous evidence and can be stated briefly, it consist of bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic or toxic cause and a significant family history. Imaging modalities for the diagnosis include CT, MRI, and plain radiography of skull. Other investigations include blood and urine testing for hematologic and biochemical indices. Disease is as yet incurable but management and treatment strategies mainly focus on symptomatic relief and eradication of causative factors; however certain evidence is present to suggest that early diagnosis and treatment can reverse the calcification process leading to complete recovery of mental functions. Families with a known history of Fahr’s disease should be counseled prior to conception so that the birth of affected babies can be prevented. This review was written with the aim to remark on the current substantial evidence surrounding this disease.

Poly (ADP-ribose) polymerases, abbreviated as PARPs, are a group of familiar proteins that play a central role in DNA repair employing the base excision repair (BER) pathway. There about 17 proteins in this family out of which the primary nuclear PARPs are PARP-1, PARP-2, PARP-3, and tankyrases 1 and 2 (PARP-5a and -5b) .The PARP family members are known to engage in a wide range of cellular activities, for example, DNA repair, transcription, cellular signaling, cell cycle regulation and mitosis amongst others. The chief functional units of PARP-1 are an amino terminal DNA binding domain (DBD), a central auto modification domain (AMD), and a carboxyl-terminal catalytic domain (CD). PARP inhibitors are currently undergoing clinical trials as targeted treatment modalities of breast, uterine, colorectal and ovarian cancer. This review summarizes current insights into the mechanism of action of PARP inhibitors, its recent clinical trials, and potential next steps in the evaluation of this promising class of anti-cancer drugs.

BackgroundTo determine the behavior of physicians regarding medical literature reading and participation in research activities at one of the largest teaching hospitals in Pakistan.MethodThis descriptive, cross-sectional study was conducted by interviewing the house officers, residents and fellows of six major specialties (Medicine, Surgery, Pediatrics, Psychology, Obstetrics & Gynecology and Anesthesia) in Civil Hospital, Karachi between August and December, 2011. The questionnaire elicited responses regarding the reading habits of physicians, preferred sources of information, their participation in research activities (publication & supervision) and views regarding journal club. SPSS 17.0 was used for data entry and analysis.ResultA total of 259 completely filled questionnaires were returned with a response rate of 85.19%. Mean age of the participants was 29.67 ± 7.65 years. Books were selected by 71.4% doctors as their preferred source of information, regardless of their clinical specialties. (p < 0.05). E-journals were preferred by 75.7% of the doctors over printed journals. This holds true for doctors from all specialties (p < 0.05). The ease of searching for relevant articles was the major contributor (50.5%) in preference of e-journals. 137 (52.9%) doctors read 5 or less articles per week. 30 (11.6%) doctors have subscription of journals (printed or electronic). At least one research paper has been published by 151 (58.3%) of the physicians interviewed. Most common reason for not participating in research activities was busy schedule (56.4%). Almost half (49.4%) doctors reported lack of journal club in their units. Of these, majority (88.35%) wanted a journal club in their respective units.ConclusionUrgent intervention is required to promote healthcare literature reading and writing practice in our physicians. Easy access to workplace computers with internet and subscription of paid journals will facilitate physicians. Lack of supervisors and busy schedule were reported to be important contributors for not participating in research. Addressing these issues will encourage doctors to participate more in research activities.

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Typically, right heart failure (RHF) may occur following left heart failure (LHF) in chronic volume overload states such as chronic severe mitral regurgitation (MR) through chronically elevated pulmonary pressures. In Lutembacher syndrome (LS), the direct shunting through a secundum type atrial septal defect (ASD) results in congestive heart failure in the setting of severe mitral stenosis (MS) with or without elevated pulmonary arterial or venous pressures. We report a rare case of severe isolated RHF and bi-atrial enlargement resulting from the direct shunting through a secundum type ASD in the presence of a severe eccentric primary MR. There are no significant cases documented like this after a thorough search using PubMed, Medline, and Google Scholar. A review of the literature suggests that LS is also caused by a combination of mitral regurgitation and a secundum-type atrial septal defect without mitral stenosis, though rarely. Because this is a primary MR, we feel it is a case of LS with MR, ruling out a combination of secondary MR and secundum-type atrial septal defect.

Colonoscopy is a safe and routinely performed procedure worldwide. However, complications such as bleeding and perforation can occur. Splenic injury after a colonoscopy is a rare complication. We present the case of a 71-year-old woman who presented to the ED due to abdominal pain after undergoing a screening colonoscopy. An abdominal CT scan showed a grade III splenic injury with a subcapsular hematoma. She was successfully managed conservatively. Splenic injuries after colonoscopy are associated with significant morbidity and mortality. A low threshold of suspicion and timely diagnosis can improve outcomes.