Tuberculous orchiepididymitis diagnosed by nucleic acid amplification test: A case report

Symptoms of tuberculous orchiepididymitis in a 39-year-old male started with swelling of left scrotum, followed by fistula formation with suppurative discharge. There was no any improvement produced by antibiotics. Surgical extirpation of inflammatory destroyed testicle and epidydimis was performed. Presence of tubercle bacilli was not shown by bacteriological analysis of testicle tissue. Tuberculous etiology was suggested after histopathological examination of testis and epididymis. Exudate from surgical wound was examined on presence of Mycobacterium tuberculosis DNA. Etiology of orchiepididymitis was proved by positive assay and inflammatory process was completely cured by antituberculotics therapy. By this report it was clearly shown that sometimes only molecular methods could confirm etiology of inflammatory process.     

Menetrier's disease associated with ulcerative colitis

In this paper a 21 year old patient was presented with Ménétrier's disease, associated with ulcerative colitis. The first symptoms of ulcerative colitis occurred at the age of eleven, since when the patient has been conservatively treated several times because of the exacerbations of the disease. During control examinations presence of polyploid changes in stomach was discovered by upper endoscopy. Gastrectomy was suggested because the patient had excessive anemic syndrome which required weekly substitutional therapy with deplasmatic eritrocytes, as well as hypoproteinemia, while multiple polyploid changes suspect for malignancy were gastroscopically identified. Patient accepted surgical treatment, and was transferred to the Clinic of Surgery. Total gastrectomy was performed, and patohistological finding confirmed Ménétrier's disease. After two weeks, the patient was released from the hospital in good general condition, with regular clinical and laboratory findings.     

Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6

We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis. Diabetes mellitus was diagnosed 10 days after birth and resolved after 6.5 months of treatment. Genetic investigation indicated the presence of paternal uniparental disomy of chromosome 6 (UPD 6). The finding of paternal UPD 6 allows prediction of a transient, rather than permanent NDM, and no increased recurrence risk of TNDM in subsequent pregnancies. Therefore, finding of NDM should be a strong indicator for genetic testing.     

Premonitory sensory phenomenon in Tourette's syndrome.

We administered a questionnaire designed to probe for premonitory sensations associated with motor tics to 50 patients with Tourette's syndrome (TS). Premonitory sensations were reported by 46 (92%) patients, and the most common sensation was an urge to move and an impulse to tic ("had to do it"). Intensification of premonitory sensations, if prevented from performing a motor tic, was reported also in 37 patients (74%), 36 patients (72%) reported relief of premonitory sensations after performing the tic, and 27 of 40 (68%) described a motor tic as a voluntary motor response to an involuntary sensation, rather than a completely involuntary movement. The "just right" sensation correlated with the presence of co-morbid obsessive-compulsive disorder. We conclude that premonitory sensations are an important aspect of motor tics and some patients perceive motor tics as a voluntary movement in response to an involuntary sensation.     

Choosing dopamine agonists in Parkinson's disease

Dopamine agonists (DAs) have been shown to be effective as monotherapy in early stages of Parkinson's disease (PD) and as an adjunctive treatment to levodopa in advanced PD. Since bromocriptine, an ergot compound, was introduced as the first commercially available DA more than 25 years ago, additional DAs have become available for clinical use. There is a remarkable paucity of data, however, that would guide clinicians in their decision process to select the most appropriate DAs. We discuss the theoretical basis for comparing the various DAs, and provide a concise analysis and summary of comparative trials of DAs in PD.     

Psychogenic hemifacial spasm

Facial spasms that distort facial expression are typically due to facial dystonia, tics, and hemifacial spasm (HFS). Psychogenic facial spasms, however, have not been well characterized. The authors sought to 1) determine prevalence of psychogenic facial spasm in patients referred for evaluation of HFS and 2) draw attention to clinical characteristics and potential diagnostic pitfalls. Among 210 consecutive patients referred for evaluation of HFS, 5 (2.4%) received diagnoses of psychogenic facial spasm. All patients were female; mean age was 34.6 years (range 26-45) and mean symptom duration 1.1 years (range 2 wk-2 yr). Onset was left-sided in 3 patients, and the lid was the initial site affected in 2 patients. This series of patients shows that facial spasms, although usually of neurovascular etiology, may be the initial or only manifestation of a psychogenic movement disorder, often associated with an underlying depression.     

Treating severe bruxism with botulinum toxin

BACKGROUND: Locally administered botulinum toxin, or BTX, is an effective treatment for various movement disorders. Its usefulness in treating bruxism, however, has not been systematically evaluated. SUBJECTS AND METHODS: The authors studied 18 subjects with severe bruxism and whose mean duration of symptoms was 14.8 +/- 10.0 years (range three-40 years). These subjects audibly ground their teeth and experienced tooth wear and difficulty speaking, swallowing or chewing. Medical or dental procedures had failed to alleviate their symptoms. The authors administered a total of 241 injections of BTX type A, or BTX A, in the subjects' masseter muscles during 123 treatment visits. The mean dose of the BTX A was 61.7 +/- 11.1 mouse units, or MU (range 25-100 MU), per side for the masseter muscles. RESULTS: The mean total duration of response was 19.1 +/- 17.0 weeks (range six-78 weeks), and the mean peak effect on a scale of 0 to 4, in which 4 is equal to total abolishment of grinding, was 3.4 +/- 0.9. Only one subject (5.6 percent) reported having experienced dysphagia with BTX A. CONCLUSION: The results of this study suggest that BTX administered by skilled practitioners is a safe and effective treatment for people with severe bruxism, particularly those with associated movement disorders. It should be considered only for those patients refractory to conventional therapy. Future placebo-controlled studies may be useful in further evaluating the potential of BTX in the treatment of bruxism.     

Primary MALT lymphoma of the kidney

A primary mucosa associated lymphoid tissue tumor (MALT) of the kidney in a 50-year-old man who suffered from on therapy resistant high blood pressure over 15 years period is presented. A mass in the right kidney (6x5x3 cm) during routine check up was discovered on ultrasonography and confirmed on CT scan and NMR. The patient was submitted to nephrectomy. A mass involving kidney, pyelon and upper part of the ureter was found. Histology showed low grade non-Hodgkin B-cell lymphoma of MALT type. The neoplastic cells were positive for monoclonal antibodies CD20, CD79alpha, surface and cytoplasmic and IgM immunoglobulins and showed light chain restriction (kappa+). After histology was available, a careful staging was performed. The disease was not found anywhere else. It was concluded that the patient belonged to the stage IE of primary kidney MALT lymphoma. Gastroscopy showed signs of chronic superficial gastritis. Urease test was positive and IgG antibodies against Helicobacter pylori in titer 421 were found as well. Except for Helicobacter pylori no additional therapy was given.