A case of isolated, corrected transposition of great arteries diagnosed with non-invasive techniques]

A case of a 34-year female patient with the isolated transposition of the great arterial trunks and mild atrioventricular (tricuspid) valve insufficiency is presented. The disease was diagnosed with non-invasive technique, particularly echocardiography. Cardiac disorders being usually concomitant with this syndrome (interventricular leak, pulmonary arterial wedge stenosis etc.) have been excluded by the aid of the contrast echographic technique and Doppler technique. The results of electrocardiographic records, which are usually helpful in the diagnosis of this abnormality have been completely useless in this case due to atypical ventricular depolarization vector pattern (QS complex in V1-V6 leads).     

Biopolymers in drug technology: the use of DNA in purifying phleomycin

It is sometimes easier and cheaper to extract a drug's target sites from cells than it is to purify, concentrate or manufacture the drug itself. This is especially true in the case of DNA and some of the exotic antibiotics that react with it. Phleomycin, an inhibitor of replication, was considered as a specific case in point. Biologically active components of this antibiotic mixture bind nondestructively to DNA, in vitro and in vivo, and thereafter may be processed by simple, economical methods usually reserved to macromolecules of much greater size.     

Tubulocystic Renal Cell Carcinoma: A Great Imitator

Tubulocystic renal cell carcinoma (TCRC) is a rare renal tumor. Patients are usually asymptomatic; it is usually detected incidentally, during imaging studies for Bosniak type III and type IV renal cysts. These tumors rarely metastasize. The role of targeted therapy in such rare tumors is still controversial. We report a case of TCRC initially presented as a Bosniak type II renal cyst and was discovered ultimately to be a metastatic disease. This type of presentation might broaden our understanding of this rare disease.     

Auricular Chromoblastomycosis: A Case Report and Review of Published Literature

Subcutaneous chromoblastomycosis is an infection commonly seen in tropical and subtropical climates, usually caused by trauma with vegetables and often affects the host’s lower limbs. We report a case of auricular chromoblastomycosis in a 67-year-old man and discuss the rarity of this clinical manifestation of chromoblastomycosis in the medical literature. In the present case, the etiologic agent was Fonsecaea pedrosoi, the most common agent found in Brazil.     

Lymph node invasion by Conidiobolus coronatus and its spore formation in vivo

Lymph node invasion with presence of conidia, their replicates, germ tubes, condidia with hair-like projections and hyphae have been observed in a case of entomophthoromycosis caused by Conidiobolus coronatus. This rare occurrence of conidia with hair-like projections that is usually observed in vitro, has been observed in vivo, in the content of an abscess produced by this agent, C. coronatus in the present case. Severe disfigurement and destruction of facial and nasopharyngeal tissues, have also been observed in this case. Response to therapy with oral KI, surgery, combinations of trimethoprim and sulphamethoxazole and steroids though found useful initially, was ineffective subsequently as the disease progressed over 7 years. Findings of lymphatic invasion and the extensive destruction observed in the present case warrants a guarded prognosis. Free conidial reproduction found in lymph nodes may suggest the possibility of this disease being infectious, requiring an active and vigorous treatment schedule and control measures in this infection.     

A legionellosis case due to contaminated spa water and confirmed by genomic identification in Taiwan

Tracing the source of a legionellosis (LG) case revealed that the Legionella pneumophila (LP) strain isolated from patient's sputum shared the same serogroup (SG) and PFGE-type with 4 LP strains obtained from a spa center. With a high LP-contamination rate (81.2%, 13/16) in all of its 16 basins, this spa center was also found to have a multi-genotypic distribution among its 13 LP isolates, which can be categorized into 5 PFGE-types. Despite such a serious contamination in the spa center, which usually had ca. 100 visitors per day, this male patient, bearing LG-risk factors of long-term heavy smoking and alcoholism, was the only case identifiable after an active investigation. To explore the possible reason for this sporadic infection, all 5 PFGE-types of LP isolated were assayed for their presence of two important virulent genes (lvh and rtx A) and were identified as either less-virulent (lvh (+) , rtx A(+)) or non-virulent (lvh (-), rtx A (-)) types. The strong virulent type (lvh (+), rtx A (+)) usually seen in clinical strains elsewhere was not found here. Moreover, the LG-causative type in this infection was the only one to be classified as the less-virulent type, with the presence of lvh gene indicating its relatively more virulent potential than other 4 PFGE-types. Accordingly, mutual interaction between LP's virulent potential and patient's health-status was suggested to be the force directing the opportunistic infection of this sporadic case. This is the first spa-associated infection caused by SG 2 of LP.     

A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report

Thoracoschisis is a very rare congenital anomaly and is usually associated with limb and abdominal wall defects forming part of limb-body wall complex. We here present a case of a 29-week-4-day pregnancy ended with intrauterine demise. Postmortem examination revealed hiatal hernia, thoracoschisis and protrusion of some part of liver from this defect, left forearm agenesis and right arm and right hand agenesis. The findings accompanying thoracoschisis in this presented case exclude any previously reported related syndrome and we believe that this is a new syndrome.     

Zenker's diverticulum as a cause of aspiration pneumonia and dysphagia in nonagenarian with moderate dementia

The association between aspiration pneumonias and digestive symptoms is frequent in geriatric patients and is usually attributed to comorbidity, being the most frequent causes cerebrovascular disease or dementia. We present the case of a 90-year-old woman, with malnutrition associated with progressive dysphagia and episodes of aspiration pneumonia, due to Zenker's diverticulum, which was treated surgically. We provide a review of this disease and analyze the criteria that can be applied when considering surgical indication in the oldest-old with dementia.     

Electrolyte balance in gastrointestinal disease

Even small losses of gastrointestinal secretions when combined with reduced intake of electrolytes may seriously disturb electrolyte balance. Knowledge of the ionic composition of secretions lost is essential in planning therapy. Loss of gastric contents usually results in excessive loss of chloride; in achlorhydria this is not the case. Loss of sodium and potassium may be large in either case and is often underestimated. Small bowel obstruction results in a more balanced loss of electrolyte which may not affect acidbase balance greatly. In diarrhea loss of base predominates, and may result in a large potassium deficit. Steatorrhea due to nontropical sprue results in large fecal losses of sodium, potassium and chloride, in addition to the large calcium and phosphorus loss. In chronic peptic ulcer excessive ingestion of milk and absorbable alkalies may result in hypercalcemia, azotemia and alkalosis, without hypercalciuria. Since renal function is usually adequate in the milder gastrointestinal disturbances, electrolyte and fluid replacement should be started early, and can be guided by generally available laboratory tests, the carbon dioxide combining power and serum chloride levels, provided the predominate ionic loss is known and potassium deficiency remedied. If this is done, development of serious fluid and electrolyte deficits can usually be prevented.     

Proteus syndrome: Clinical profile of six patients and review of literature

OBJECTIVE:

Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients.

MATERIALS AND METHODS:

Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome.

RESULTS:

Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood.

CONCLUSION:

Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.     

Bronchoalveolar Lavage In the Diagnosis of Bronchiolo-Alveolar Carcinoma. A Case Report

Bronchiolo-alveolar carcinoma is usually localized to the terminal bronchioles and alveoli, and may present on chest X-ray as interstitial pulmonary disease with diffuse reticulonodular infiltrates. The cytological diagnosis is often difficult to obtain. This case demonstrates that bronchoalveolar lavage can be useful in the diagnostic evaluation of this type of malignancy, in conjunction with transbronchial lung biopsy.     

The carcinoid tumour in Meckel's diverticulum: how to treat young adults with appendicitis?--Case report

This case reports the concomitant and unexpected finding of carcinoid tumour within a Meckel's diverticulum presenting as an acute abdomen due to gangrenous appendicitis in a young adult male. Both Meckel's diverticula and carcinoid tumour are rare clinical entities, and carcinoid tumours occurring within a Meckel's diverticulum are even more uncommon. The initial clinical presentation of carcinoid tumours occurring in a Meckel's diverticulum is usually similar to that of appendicle carcinoids.Carcinoid tumours are the most common primary tumour of the small bowel. They resemble appendicle carcinoids to the extent that they are usually small, single, and asymptomatic. Surgical treatment of Meckel's diverticula is recommended procedure. By presenting this case we wished to stress the value of systematic identification and removal of the diverticulum during laparotomy and to underline the importance of exploration the Meckel's diverticulum particularly in case of young adult subjects.     

Primary Cutaneous Mucormycosis Presenting as a Giant Plaque: Uncommon Presentation of a Rare Mycosis

Mucormycosis is an uncommon opportunistic fungal infection caused by Zygomycetes. It usually affects immunocompromised, diabetic and trauma patients with infected wounds. We report a case of disseminated infection secondary to facial cutaneous mucormycosis caused by Saksenaea vasiformis in a diabetic patient who had a farming accident causing him severe head injury. The patient was treated with a combination of surgical debridement and antifungal therapy with liposomal amphotericin B, but he had a slow and fatal outcome. In cases of tissue necrosis following trauma involving wound contact with soil (i.e., potential fungal contamination), testing for the presence of Zygomycetes fungi such as S. vasiformis in both immunocompetent and immunocompromised patients is crucial. The reason is that this infection usually has a rapid progression and may be fatal if appropriate treatment is not administered.     

Enfermedad hemolítica del feto y del recién nacido por aloanticuerpos contra el antígeno M

There are few case reports of hemolytic disease in fetuses and newborns (HDFN) caused by alloantibodies against the MNS blood group system. The reason for this dearth is that antibodies toward these antigens are usually IgM, which not only cannot cross the placental circulation but also react at temperatures below 37°C. They are, therefore, of minimal clinical importance. Nevertheless, cases have been reported in which the presence of anti-M IgG antibodies caused severe HDFN and even intrauterine death in the presence of maternal-fetal MNS incompatibility indicating that they could have a high clinical impact. The hemolytic pattern observed in these cases is similar to that caused by anti-Kell antibodies. Progressive anemia is mediated and developed through hematopoietic suppression inducing the destruction of bone marrow precursor cells with the resulting absence of reticulocytes in peripheral blood.This occurred in the case of a woman at 38.5 weeks of gestation who showed a discrepancy between direct and reverse blood type determination. A direct Coombs test was performed on the newborn’s blood, which was positive in the absence of maternal-fetal ABO incompatibility. Further tests were performed and anti-M antibodies were found in the maternal serum screening. Our final diagnosis was largely due to discrepancy issues in maternal blood. Although anti-M antibodies do not usually play a significant role in HDFN, this case stresses the importance of identifying the presence of antibodies that can be crucial in preventing HDFN and lead to new recommendations for the screening and prompt treatment of hemolysis in newborns.     

Extended theoretical analysis of irreversible protein thermal unfolding

The theoretical analysis of the protein denaturation model which includes an irreversible, exothermic and rate-limited step has been improved and applied to the DSC profile of Azurin. The two-step nature of the irreversible denaturation of globular proteins is usually depicted in the following simplified scheme: N <--> U <--> F, which is known as the Lumry and Eyring model. In most of the works concerning the thermal unfolding of proteins, it is usually assumed that the irreversible step of the process does not take place significantly during the short time the protein spends in the temperature range of the DSC transition, or if this is not the case, that this irreversible step occurs with a negligible thermal effect. As we will show, this last assumption cannot be accepted acritically; in fact we have found that in the case of Azurin an evident exothermic effect occurs at the end of the transition. In order to fit the experimental Cp(exc) profile of Azurin, we have analyzed a model in which the exothermic effects of the irreversible step and the variations of DeltaH with temperature are taken into account. Our model was first tested simulating a series of profiles and considering the effects of the variation of the parameters on the shape of the curves, and successfully used to fit the experimental calorimetric profile of Azurin.     

Orbital Dirofilariasis in Iran: A Case Report

Dirofilariasis is a common parasitic disease in both domestic and wild animals around the world, with canines as the principal reservoir host and mosquitoes as the vector. Human ophthalmic dirofilariasis is an uncommon condition, but there have been reports from many parts of the world, including Africa, Australia, the Americas, Europe, and Asia. Ophthalmic involvement with Dirofilaria may present itself as periorbital, subconjunctival, orbital, or intraocular infections. In this report, we present a case of orbital dirofilariasis with lateral rectus muscle involvement. To our knowledge, this is the first orbital dirofilariasis case reported in Iran. Although debulking of the tumor usually leads to resolution, our patient showed an episode of recurrence after biopsy. Complete recovery was achieved after a spontaneous discharge, without the need for systemic medication.     

Hypercalcemia in glioblastoma multiforme

Hypercalcemia is commonly associated with cancer, occurring in around 10-20% of cancer patients. Hypercalcemia is usually related to solid and non-solid malignancies specifically breast cancer, lung cancer and multiple myeloma. Hypercalcemia has been reported to occur in association with astrocytomas, and uncommonly in gliomas. We report a case of a previously healthy man presenting with glioblastoma multiforme . He was found to have persistently elevated serum calcium and calcitriol with normal parathyroid function. This is the first reported case of hypercalcemia associated with glioblastoma multiforme.     

Sister Mary Joseph's nodule. Diagnosis of umbilical metastases by fine needle aspiration

Three cases of Sister Mary Joseph's nodule (umbilical metastases) are presented. The probable primary tumor in all three cases was an ovarian adenocarcinoma. Fine needle aspiration (FNA) was used to confirm the secondary nature of the umbilical lesion in one case. The entity is named after Sister Mary Joseph, who was Superintendent at the Mayo Clinic in the early part of this century. The primary lesion is most commonly found in the genital or gastrointestinal tracts. Since the prognosis for this lesion is extremely poor, with a mean survival of a few months, surgery is usually not indicated; FNA is recommended as a convenient means of confirming the suspected diagnosis.     

Genetic algorithm based fuzzy logic control of a fed-batch fermentor

In the normal fuzzy logic control (FLC) system, both the membership functions and the rule sets are usually decided upon subjectively, case by case. The application of Genetic Algorithm(GA) could lead to proper selection of membership functions and rule base objectively. In this paper, the optimisation of membership functions of a FLC for a fed-batch fermentor is carried out with help of Genetic Algorithm (GA). Results are found to be satisfactory.     

Infectious arthritis as the single manifestation of sporotrichosis: serology from serum and synovial fluid samples as an aid to diagnosis

Sporotrichosis is a generally cutaneous, granulomatous, chronic and benign infection. Less frequently the disease may affect the joints. Articular involvement is usually characterized by monoarthritis in the absence of systemic symptoms, generally preceded by skin lesions, and frequently affects immunosuppressed individuals. We describe here the case of a healthy patient presenting knee arthritis without skin lesions, diagnosed as sporotrichosis, and treated with oral itraconazole. Serology used in this case was an invaluable tool for the diagnosis of sporotrichosis arthritis lacking skin lesions.