Minimally invasive techniques as a first line approach in the management of emphysematous pyelonephritis - A single centre experience.

Context: Emphysematous pyelonephritis (EPN) is a dangerous necrotizing infection of the kidney involving the diabetics with a high case fatality rate. Recent medical literature has shown shifting of treatment strategy from conventional radical approach to minimally invasive approach. Aims: The aim of our study was to assess the role of minimally invasive stepwise decompression techniques in the management of EPN and preservation of the renal unit. Settings and Design: : This was a retrospective observational study conducted from June 2017 to April 2020 at a tertiary care centre. Material and Methods: We reviewed the hospital online records of 18 patients diagnosed with EPN for patient demographics, clinical profiles, co-morbidities, laboratory and, radiological investigations, surgical interventions performed and the outcomes. The severity of EPN was graded as per the Huang classification. Patients underwent surgical interventions as per the treatment protocol and response was assessed. Statistical Analysis Used: Descriptive statistics was applied. Results: Diabetes mellitus was present in 15 (83.3%) patients along with urinary tract obstruction in 8 (44.4%) patients. Flank pain (77.7%) was the most common presenting clinical feature while Escherichia coli (55.5%) were the most common causative organism. Most patients (50%) had Type- II EPN, all of which were managed successfully by minimally invasive procedures. In total seventeen patients (94.4%) responded well while one patient (5.5%) underwent nephrectomy with no mortality. Conclusions: Renal salvage in EPN requires multidisciplinary approach including the initial medical management followed by properly selected stepwise decompressive surgical techniques. Conservative management and decompression techniques have shown to improve patient's outcome, reducing the traditional morbidity associated with nephrectomy.

Primary cutaneous osteosarcoma of the scalp in an immunosuppressed individual: A case report and review of the literature.

We report a case of a 76-year-old man presenting with a 12-month history of a solitary lesion on his scalp. The histopathology was consistent with a grade 2/3 osteosarcoma extending to the subcutis. Full-body imaging excluded any involvement of the underlying bony tissue or solid organ malignancy, thus a diagnosis of primary cutaneous osteosarcoma (PCO) was made. Given the exceedingly rare nature of PCO, we discuss the clinico-pathological features of this case and those previously reported in the literature.

"I AM A KID AT HEART.".

Ewing's sarcoma is a rare, malignant bone tumor that occurs in children/young adults, and is known as the "small, round, blue cell tumor." The infrequency makes it a challenging diagnosis, especially when the typical patient characteristics are bypassed for decades.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous disorder with numerous causative genes identified; however, about half the cases lack a molecular diagnosis. We undertook whole exome sequencing in an A/M family with two affected siblings, two unaffected siblings, and unaffected parents; the ocular phenotype was isolated with only mild developmental delay/learning difficulties reported and a normal brain magnetic resonance imaging (MRI) in the proband at 16 months. No pathogenic mutations were identified in 71 known A/M genes. Further analysis identified a shared heterozygous mutation in COL4A1, c.2317G>A, p.(Gly773Arg) that was not seen in the unaffected parents and siblings. Analysis of 24 unrelated A/M exomes identified a novel c.2122G>A, p.(Gly708Arg) mutation in an additional patient with unilateral microphthalmia, bilateral microcornea and Peters anomaly; the mutation was absent in the unaffected mother and the unaffected father was not available. Mutations in COL4A1 have been linked to a spectrum of human disorders; the most consistent feature is cerebrovascular disease with variable ocular anomalies, kidney and muscle defects. This study expands the spectrum of COL4A1 phenotypes and indicates screening in patients with A/M regardless of MRI findings or presumed inheritance pattern.

Thin film epitaxial [111] Co[Formula: see text]Pt[Formula: see text]: structure, magnetisation, and spin polarisation.

Ferromagnetic films with perpendicular magnetic anisotropy are of interest in spintronics and superconducting spintronics. Perpendicular magnetic anisotropy can be achieved in thin ferromagnetic multilayer structures, when the anisotropy is driven by carefully engineered interfaces. Devices with multiple interfaces are disadvantageous for our application in superconducting spintronics, where the current perpendicular to plane is affected by the interfaces. Robust intrinsic PMA can be achieved in certain Co[Formula: see text]Pt[Formula: see text] alloys and compounds at any thickness, without increasing the number of interfaces. Here, we grow equiatomic Co[Formula: see text]Pt[Formula: see text] and report a comprehensive study on the structural, magnetic, and spin-polarisation properties in the [Formula: see text] and [Formula: see text] ordered compounds. Primarily, interest in Co[Formula: see text]Pt[Formula: see text] has been in the [Formula: see text] crystal structure, where layers of Pt and Co are stacked alternately in the [100] direction. There has been less work on [Formula: see text] crystal structure, where the stacking is in the [111] direction. For the latter [Formula: see text] crystal structure, we find magnetic anisotropy perpendicular to the film plane. For the former [Formula: see text] crystal structure, the magnetic anisotropy is perpendicular to the [100] plane, which is neither in-plane or out-of-plane in our samples. We obtain a value for the ballistic spin polarisation of the [Formula: see text] and [Formula: see text] Co[Formula: see text]Pt[Formula: see text] to be [Formula: see text].

A diagnostic challenge: acute generalized exanthematous pustulosis or pustular psoriasis due to terbinafine.

A 72-year-old man developed a generalized erythematous pustular eruption 11 weeks after commencing terbinafine. Clinically and histologically, the appearance was that of acute generalized exanthematous pustulosis (AGEP), and the disease was managed with topical preparations. Initial improvement was marred by relapse of acute pustulosis, now more in keeping with terbinafine-induced pustular psoriasis (PP), which was successfully treated with acitretin. This case highlights the difficulty of differentiating between AGEP and PP.

Arterial Spin-Labeling Perfusion for PHACE Syndrome.

BACKGROUND AND PURPOSE: Arterial stroke is a rare-but-reported complication in patients with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome. Currently, stroke risk is inferred by the severity of arterial anomalies identified on MRA, though no evidenced-based data exist. The purpose of our study was to determine whether arterial spin-labeling MR imaging perfusion can detect alterations in CBF in patients with PHACE syndrome. MATERIALS AND METHODS: Records were reviewed from 3 institutions for all patients with PHACE syndrome who underwent arterial spin-labeling from 2000 to 2019. CBF was qualitatively investigated with arterial spin-labeling to determine whether there was decreased or normal perfusion. Arterial anomalies were characterized on MRA imaging, and parenchymal brain findings were evaluated on conventional MR imaging sequences. RESULTS: Forty-one patients with PHACE syndrome had arterial spin-labeling imaging. There were 30 females and 11 males (age range, 7 days to 15 years). Of the 41 patients, 10 (24%) had decreased CBF signal corresponding to a major arterial territory. Ten of 10 patients had decreased CBF signal in the anterior circulation, 2/10 had decreased anterior and posterior circulation CBF signal, 2/10 had decreased bilateral anterior circulation CBF signal, and 1/10 had globally decreased CBF signal. Forty of 41 (97.5%) patients had at least 1 arteriopathy, and in those with decreased CBF signal, the arteriopathy corresponded to the CBF signal alteration in 10/10 patients. CONCLUSIONS: Arterial spin-labeling can potentially characterize hemodynamic changes in patients with PHACE syndrome.

Wolff-Parkinson-White syndrome and rheumatic mitral stenosis--an uncommon association.

The coexistence of rheumatic mitral stenosis and Wolff-Parkinson-White syndrome is an uncommon entity. We report here one such case.

Spectrophotometric determination of tranexamic acid using vanillin.

A new spectrophotometric method has been examined for the determination of the tranexamic acid (TA) by derivatization with vanillin (VAN). The molar absorptivity of TA was calculated 25,160 L x mol(-1) x cm(-1) at lambdamax 354 nm and obeyed the Beer's law within 0.5-2.5 microg x mL(-1). The color reaction was highly stable and did not show any change in absorbance up to 24 h. The method was applied for the analysis of TA from capsules, injections and tooth pastes. The amounts of TA found in capsules, injections and tooth pastes of various pharmaceutical companies were observed with 249.0-250.9 mg/capsule, 249.3-250.7 mg/injection and 0.048%-0.049% in tooth pastes with relative standard deviation (RSD) 0.2%-5.0% (n = 3).

Exploring hemostatic and thrombolytic potential of heynein - A cysteine protease from Ervatamia heyneana latex.

ETHNOPHARMACOLOGICAL RELEVANCE: The latex of Ervatamia heyneana (Wall.) T. Cooke plant has been used for wound healing and various skin diseases by Indian tribes and folklore. AIM OF THE STUDY: To validate the scientific basis of heynein - a key protease of Ervatamia heyneana, in hemostasis and wound healing process. MATERIALS AND METHODS: The latex from E. heyneana was processed and subjected to two step purification. The purified heynein was assayed for proteolytic activity using casein as substrate and also attested by zymography. The inhibition studies confirmed the nature of heynein. Pure fibrinogen was used for fibrinogenolytic activity and citrated plasma was used for coagulant and fibrinolytic activities. The edema inducing action and hemorrhagic activity of heynein were assessed on mice model. RESULTS: The purified heynein exhibited proteolytic activity, which was confirmed by caseinolytic assay and zymography. The inhibition studies confirmed heynein to be a cysteine protease. Heynein showed complete hydrolysis of all the three subunits of human fibrinogen (Aα, Bß, γ). It exhibited strong pro-coagulant activity by reducing plasma clotting time from 248 to 39s at 40µg concentration. Heynein cleaved α polymer subunit in fibrin clot and did not induce edema and hemorrhage in mice models. The non-hemorrhagic nature was supported with histopathological studies of skin samples. CONCLUSION: Heynein displays strong pro-coagulant action associated with fibrin(ogen)olytic activity. This provides basis for the observed pharmacological action of Ervatamia heyneana and thereby justifies its use in folk medicine.

American Society of Functional Neuroradiology-Recommended fMRI Paradigm Algorithms for Presurgical Language Assessment.

INTRODUCTION: Functional MR imaging is increasingly being used for presurgical language assessment in the treatment of patients with brain tumors, epilepsy, vascular malformations, and other conditions. The inherent complexity of fMRI, which includes numerous processing steps and selective analyses, is compounded by institution-unique approaches to patient training, paradigm choice, and an eclectic array of postprocessing options from various vendors. Consequently, institutions perform fMRI in such markedly different manners that data sharing, comparison, and generalization of results are difficult. The American Society of Functional Neuroradiology proposes widespread adoption of common fMRI language paradigms as the first step in countering this lost opportunity to advance our knowledge and improve patient care. LANGUAGE PARADIGM REVIEW PROCESS: A taskforce of American Society of Functional Neuroradiology members from multiple institutions used a broad literature review, member polls, and expert opinion to converge on 2 sets of standard language paradigms that strike a balance between ease of application and clinical usefulness. ASFNR RECOMMENDATIONS: The taskforce generated an adult language paradigm algorithm for presurgical language assessment including the following tasks: Sentence Completion, Silent Word Generation, Rhyming, Object Naming, and/or Passive Story Listening. The pediatric algorithm includes the following tasks: Sentence Completion, Rhyming, Antonym Generation, or Passive Story Listening. DISCUSSION: Convergence of fMRI language paradigms across institutions offers the first step in providing a "Rosetta Stone" that provides a common reference point with which to compare and contrast the usefulness and reliability of fMRI data. From this common language task battery, future refinements and improvements are anticipated, particularly as objective measures of reliability become available. Some commonality of practice is a necessary first step to develop a foundation on which to improve the clinical utility of this field.

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing. We found three different mutations among five families. Two unrelated subjects shared the same de novo missense substitution in exon 13 (S502T); an additional two unrelated families had a mutation in exon 3 (Y63C); and one subject had the amino acid substitution Y62D, also in exon 3. None of the three mutations were present in ethnically matched controls. In the mature protein model, the exon 3 mutants and the exon 13 mutant amino acids cluster at the interface between the N' SH2 domain and the phosphatase catalytic domain. Six of eight subjects with PTPN11/SHP2 mutations had pulmonary valve stenosis while no mutations were identified in those subjects (N = 4) with hypertrophic cardiomyopathy. An additional four subjects with possible Noonan syndrome were evaluated, but no mutations in PTPN11/SHP2 were identified. These results confirm that mutations in PTPN11/SHP2 underlie a common form of Noonan syndrome, and that the disease exhibits both allelic and locus heterogeneity. The observation of recurrent mutations supports the hypothesis that a special class of gain-of-function mutations in SHP2 give rise to Noonan syndrome.

Eight families with Joseph's disease in India.

We report 8 additional cases of Joseph's disease (JD) from India and conclude (1) the most common pattern is type III, with few cases of types II and II-III; (b) type III JD in India has an earlier onset of symptoms (mean age at onset, 25.6 years) than the Azorean cases; and (3) a "pinched face" is a frequent minor clinical sign.

Spontaneous intraventricular haemorrhage.

Twenty-one patients with spontaneous intraventricular haemorrhage (IVH) were reviewed with particular reference to the clinical outcome. Based on clinical and computed tomography (CT) findings, as well as possible mechanisms governing the formation of IVH, we were able to identify two separate groups: patients with haemorrhage into ventricles without clinical or CT evidence of a lesion in adjacent brain parenchyma and patients with IVH occurring as a result of erosion of the ventricular wall by either a juxtaventricular small haematoma shown by CT and/or IVH with focal neurological deficit. Out of 12 patients in the first group, 8 survived and resumed their previous activities; in the second group (i.e. patients with clinical and/or CT evidence of adjacent intraparenchymal bleeding only three patients survived, two with considerable handicap. The overall prognosis, however, was significantly better in patients with IVH of unknown cause. Altered sensorium as an initial presentation was associated with a grave prognosis, irrespective of the cause of IVH. The outcome was not affected by the age of patient or the amount of blood within the ventricles. Our data suggest a favourable outcome in a relatively large percentage of patients with spontaneous IVH, if there is no clinical or CT evidence of concomitant parenchymal bleeding. Hence we question the notion that there is a grave prognosis in all kinds of IVH.

Pure motor hemiparesis due to non-hypertensive putaminal haemorrhage.

The syndrome of pure motor hemiplegia (PMH) has been traditionally regarded to be due to lacunar infarcts at various places in the brain. Recently, attention has been drawn towards various other aetiological factors which have been responsible for this clinical presentation. PMH as a result of hypertensive putaminal haemorrhage is extremely uncommon. A case of PMH as a result of non-hypertensive putaminal haemorrhage is described.

Appearance of tuberculoma during the course of TB meningitis.

A patient with tuberculous meningitis is described, who developed brainstem tuberculoma after 7 months of adequate drug therapy and while improving satisfactorily. The possible factors resulting in the development of tuberculoma are discussed. The tuberculoma responded to the medical therapy. Tuberculoma should be looked for if the condition of the patient worsens or if the patient develops new neurological signs during the course of TB meningitis.

Effect of undernutrition on developing rat cerebellum. Some electrophysiological and neuromorphological correlates.

Electrophysiological studies of Purkinje cells from the developing normal and undernourished rat cerebellar cortex were correlated with the neuromorphological studies. In undernourished animals the firing pattern of Purkinje cells was simpler as compared to complex electrical activity in normal animals. The firing frequency of Purkinje cells remained reduced in all the age-matched undernourished groups. The duration of a spike was also prolonged as compared to their normal age mates. Similarly the mean amplitude was also relatively smaller in the undernourished animals when compared with the normal litter mates. Undernourished animals exhibited typical increased stimulus thresholds, prolonged N-2 peak wave latencies, reduced number of functional components, amplitude and increased duration of mossy fiber response (MFR). The mossy fiber (MF) activity exhibited a sluggish rise in its amplitude, when stimulus intensity was increased in undernourished animals. A phenomenon of fatigue was observed with a significant reduction in the amplitude and frequency of Purkinje cell unit discharge on repeated MF stimulation in the undernourished animals. However, repeated MF stimulation provided a high frequency discharge in the normal as well as undernourished adult rats. Neuromorphological studies at light-microscopic level exhibited delayed cell migration from the external granular layer in the undernourished rats. At electron-microscopic level, intracellular morphology exhibited almost similar ultrastructural details except for a few minor alterations. A free ribosomal pool, immature development of E.R., increased incidence of lysosomes and electron-dense membrane stacks were observed in the Purkinje cells at 30 days in the undernourished animals. The results of the present study indicated that undernutrition affects the maturation of Purkinje cell regional neurocircuitry.

Purkinje cell evoked unit activity in developing normal and undernourished rats.

Purkinje cell evoked unit activity was studied in developing normal and undernourished postnatal rats from 5 to 30 days. Ipsilateral electrical stimulation of the sciatic nerve, induced mossy fiber (MF) mediated simple spike activity or climbing fiber (CF) mediated complex multiple discharge activity. MF mediated response exhibited the phenomenon of electrical fatigue, while CF mediated response was augmented on repeated peripheral stimulation. Undernourished rats exhibited irregular and reduced spike amplitudes, spike frequencies, significantly increased stimulus thresholds and increased biological variabilities in their response on repeated electrical stimulation as compared to normal animals which exhibited a typical graded response at increasing stimulus frequencies and stimulus intensities. The after-hyperpolarization duration was also significantly increased in the undernourished as compared to normal rats. These data suggests that undernutrition, imposed during the lactation period can induce impairments in the Purkinje cell membrane dynamics and delays MF as well as CF mediated functional maturation in the developing cerebellum, which may induce delayed motor learning in young undernourished individuals.

Sister-chromatid exchanges are increased in epileptics, but not by sodium valproate.

Sister-chromatid exchange (SCE) frequency has been studied from peripheral blood lymphocyte cultures of 21 patients with epilepsy on sodium valproate, 20 patients who had not started therapy (untreated) and 20 normal healthy controls. Treated and untreated patients with epilepsy were observed to have higher SCE frequencies (mean 9.05 and 9.82 respectively) than healthy controls (mean 4.8; P < 0.001). There was no significant difference in SCE frequency between treated and untreated patients. This suggests that the disease itself may be associated with an increased frequency of SCEs.