scholarly journals MON-073 Hyperinsulinemic Hypoglycemia Responsive to Diazoxide Due to a Previously Unknown ABCC8 Dominant Mutation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Veronica M Figueredo ◽  
Alejandro Diaz ◽  
Pedro Pagan Banchs
Keyword(s):  
Brain Mri ◽  
Poor Response ◽  
White Matter Injury ◽  
Response To Treatment ◽  
Hyperinsulinemic Hypoglycemia ◽  
Dominant Mutation ◽  
Suspected Sepsis ◽  
Intravenous Glucose ◽  
History Of

Abstract Background: Hyperinsulinism is the most common cause of persistent hypoglycemia. It results from different genetic defects, the most common being recessive and dominant mutations in the ABCC8/KCNJ11 genes. The majority of recessive mutations have a poor response to Diazoxide, while dominant mutations are highly variable in both clinical presentation and response to treatment. Prompt recognition and management is critical to avoid irreversible brain damage. Clinical case: A 38-week gestation male, born via emergent c-section due to decreased fetal movement, presented with neonatal hypoglycemia. Pregnancy was uncomplicated and mother had a normal OGTT. Patient had a history of suspected sepsis, seizures, pulmonary hypertension and respiratory distress requiring intubation. Blood glucose was undetectable at birth and required multiple dextrose 10% boluses. A critical sample with a glucose of 47 mg/dL showed an elevated insulin at 30.3 m IU/mL with undetectable ketone levels. Lactic acid, ammonia, cortisol, GH, plasma amino acids, acylcarnitine profile and uric organic acids where all normal for a hypoglycemic state. He required intravenous glucose infusion with GIR up to 17 mg/kg/min to maintain normoglycemia. A brain MRI at 11 days of life showed findings of white matter injury. Subsequent genetic testing identified a heterozygous c.4051G>A (p.Val1351Met) variant in ABCC8, classified as “of uncertain significance”. However, an entry in the ClinVar database (RCV000714711.1) exists from a research lab and was classified as likely pathogenic. Analysis of parental samples showed that the mother was heterozygous for the same genetic variant. She did not have a history of hypoglycemia. Patient was started on diazoxide (8 mg/kg/day) and chlorothiazide with resolution of hypoglycemia. At a follow up visit at 5 months of age, there was no history of hypoglycemia, and no need for adjustments of the diazoxide dose by weight (dose at that time of 7.4 mg/kg/day). Conclusion: The ABCC8 reported here is a dominant mutation causing hyperinsulinemic hypoglycemia responsive to diazoxide with a milder phenotype later in infancy. Longitudinal follow up of the case is warranted to understand the long term progress in patients with this particular mutation. Reference: Adam MP, Ardinger HH, Pagon RA, Wallace SE, et al. None. 1993. Familial hyperinsulinism.

Phlegmonous gastritis in 2 yearling horses

2022 ◽  
pp. 104063872110650
Author(s):  
Julie B. Engiles ◽  
Francisco A. Uzal ◽  
Mauricio A. Navarro ◽  
Virginia B. Reef ◽  
Susan J. Bender
Keyword(s):  
Clinical Signs ◽  
Poor Response ◽  
Abdominal Ultrasound ◽  
Mucosal Injury ◽  
Response To Treatment ◽  
Bacterial Populations ◽  
Proliferative Enteropathy ◽  
Mucosal Involvement ◽  
Phlegmonous Gastritis ◽  
History Of

Phlegmonous gastritis was diagnosed in 2 yearling fillies that were presented with a 1-wk history of fever, lethargy, and hypoproteinemia, associated with a previous diagnosis of equine proliferative enteropathy based on clinical signs and PCR assay detection of Lawsonia intracellularis in fecal samples. Abdominal ultrasound revealed enlargement of the stomach and expansion of its submucosal layer with hypoechoic fluid, as well as thickened hypomotile small intestinal segments. Given the poor prognosis and poor response to treatment, both horses were euthanized, one on the day of presentation and the other after 3 wk of intensive medical management including a combination of antimicrobials, analgesics, and intravenous colloids. At autopsy, acute mural gastritis characterized by severe submucosal edema with suppurative inflammation (i.e., phlegmonous gastritis) and necroulcerative enteritis compatible with the necrotizing form of equine proliferative enteropathy were identified in both horses. The gastric inflammation was associated with thrombosis and mixed bacterial populations, including Clostridium perfringens, that were confined to the submucosa without evidence of mucosal involvement; toxin genes compatible with C. perfringens type C were identified in one case. Human phlegmonous gastritis is an uncommon, often-fatal pyogenic infection that is often associated with mucosal injury, bacteremia, or immunocompromise. Our finding of this unusual gastric lesion in 2 horses with similar signalment, clinical disease, and spectrum of postmortem lesions suggests a similar etiopathogenesis that possibly involves local, regional, or distant hematogenous origin, and should be considered a potential complication of gastrointestinal mucosal compromise in horses.

Efficacy of local treatments in Prurigo Pigmentosa after Bariatric surgery

2021 ◽  
Vol 07 (02) ◽  
pp. 01-03
Author(s):  
Mezoun Almuhaimeed
Keyword(s):  
Bariatric Surgery ◽  
Clinical Presentation ◽  
Response To Treatment ◽  
Single Female ◽  
Provisional Diagnosis ◽  
Patient Response ◽  
Medical City ◽  
History Of ◽  
Multivitamin Supplements

A 22-year-old single female presented to primary care Wazarat Health Center at Prince Sultan Military Medical City in Riyadh, with a 3 weeks history of itchy erythematous papules and vesicles and papulo-vesicles over the neck, chest, and upper back and face, which started 4 to 5 days after bariatric surgery. The patient on daily multivitamin supplements, vitamin D (50,000 IU, weekly / 2 months). The patient has lost 4kg since the operation, family history of atopy was positive regarding the mother physical examination shows erythematous papules and vesicles and papulo-vesicles over the neck with crust, chest, and upper back, Based on medical history and clinical presentation a provisional diagnosis was Prurigo Pigmentosa. The patient was prescribed topical mometasone furoate cream (BID for one week). Two -week follow-up showed improvement of the eruption. The course of the disease was shorter than usual in such cases the patient response to treatment was reactive to the topical mometasone without taking the oral minocyline, which major of such cases need in the late course of the disease The patient starts to improve within 2 weeks compared to others who need an average of 6 weeks to improve in such cases

Histochemical Analysis of Lacrimal Concretions in the Patients using Rebamipide Ophthalmic Suspension

2020 ◽  
Author(s):  
Ken Yamashita ◽  
miki hiraoka ◽  
Shintaro Sugita ◽  
Takatoshi Yotsuyanagi
Keyword(s):  
Amorphous Material ◽  
Drainage System ◽  
Poor Response ◽  
Response To Treatment ◽  
Cottage Cheese ◽  
Positive Staining ◽  
Chemical Studies ◽  
History Of ◽  
Layer Chromatography ◽  
Ophthalmic Suspension

Abstract Backgroud: Concretions of the lacrimal drainage system can cause dacryocystitis. In the present study, our patient developed dacryocystisis with lacrimal concretions of a white soft mass. Rebamipide ophthalmic suspension had been applied for treatment of dry eye. To evaluate the pathogenic mechanism of the case, histological and chemical studies were performed.Case presentation: Our case was woman in her seventies. She had a medical history of rheumatoid arthritis. She was referred to our hospital for dacryocystitis after showing a poor response to treatment with antibiotic agents. A head computed tomography (CT) scan showed ductal high-density deposits along the lacrimal sacs. During dacryocystotomy, the hypertrophy of the lacrimal sacs was found replete with pus and cottage cheese-like white substances. The extracts were surgically removed and histological and chemical analysis was performed. The histological examination showed granulation tissues and acellular amorphous material with crystal-like structures. Positive staining by Alcian blue and Kossa was found in crystal-like legions. The extract obtained from the concretions showed the same fluorescence band and UV absorption spectrum in thin layer chromatography (TLC) and spectrometry, respectively, as rebamipide.Conclusion: Our findings suggest that the obstruction by lacrimal concretions containing rebamipide resulted in dacryocystitis in this case. In addition, it is speculated that in patients who have impaired tear secretion, refractory dacryocystitis may be evoked following the accumulation of rebamipide in the lacrimal sacs.

A Follow-up Study of Psychiatric Disturbance in a Cape Coloured Community

1973 ◽  
Vol 123 (574) ◽  
pp. 279-283 ◽  
Author(s):  
L. S. Gillis ◽  
G. L. Stone
Keyword(s):  
Mental Disorders ◽  
Natural History ◽  
Psychiatric Disorders ◽  
Longitudinal Studies ◽  
Response To Treatment ◽  
Psychiatric Disturbance ◽  
Follow Up Study ◽  
History Of

Longitudinal studies of psychiatric disturbance in communities are important in order to determine the natural history of mental disorders. Most studies have focused on the prevalence of known psychiatric disorders and response to treatment, but only a few on the follow up of a population not previously recognized as psychiatrically ill (Beiser (1), Hagnell (5), Helgason (6), Myers and Bean (10)). The present study is an attempt to do this, and also to follow up untreated disorder within a community.

scholarly journals Unusual presentation of vitamin D3-dependent rickets type II in a kitten

2020 ◽  
Vol 6 (1) ◽  
pp. 205511692091027
Author(s):  
Florent Duplan ◽  
Christina Maunder
Keyword(s):  
Vitamin D ◽  
Positive Response ◽  
Abdominal Distension ◽  
Response To Treatment ◽  
Type I ◽  
Type Ii ◽  
Different Types ◽  
History Of ◽  
Radiographic Changes

Case summary A 15-week-old kitten presented with a 1-month history of intermittent generalised tremors and abdominal distension. Hypocalcaemia associated with increased 1,25-vitamin D3 was consistent with vitamin D3-dependent rickets type II. The bone appearance on CT scan was most consistent with the changes typically seen with nutritional secondary hyperparathyroidism and less typical of the changes seen with rickets. Our patient had a positive response to high vitamin D3 therapy as it remained normocalcaemic 16 months after diagnosis, supporting the diagnosis of rickets. Relevance and novel information This case report is an unusual and interesting presentation of rickets in a kitten. Despite the characteristic vitamin D3 disturbance for rickets type II, the atypical radiographic changes have not been previously reported. In the literature, a positive response to treatment is not commonly seen or follow-up is short. Our case responded well to treatment and was followed for 16 months from the time of diagnosis. This emphasises that the pathophysiology of the condition is not well understood, and that different types of vitamin D3-dependent rickets type II may exist. Although the genetic defects responsible for some cases of rickets type I have been identified, this has still not been determined for rickets type II.

scholarly journals RADI-24. VENTRICULOMEGALY AFTER STEREOTACTIC RADIOSURGERY (SRS) FOR BRAIN METASTASES (BM): A PILOT ANALYSIS OF TWO INSTITUTIONAL EXPERIENCES

2019 ◽  
Vol 1 (Supplement_1) ◽  
pp. i26-i26
Author(s):  
Ali Alattar ◽  
Jiri Bartek ◽  
Brian HIrshman ◽  
Clark Chen
Keyword(s):  
Stereotactic Radiosurgery ◽  
Cerebral Atrophy ◽  
White Matter Injury ◽  
Whole Brain Radiation ◽  
History Of ◽  
Radiation Induced ◽  
A Prospective Study ◽  
The University ◽  
Brain Radiation

Abstract INTRODUCTION: Ventriculomegaly, or dilatation of the cerebrospinal fluid (CSF) space, occurs after whole-brain radiation (WBRT) of brain metastasis (BM) patients due to either 1) hydrocephalus or 2) cerebral atrophy from radiation-induced white matter injury. In this study, we examined whether cumulative radiation from repeat stereotactic radiosurgery (SRS) increases the risk of ventriculomegaly. METHODS: Patients were included if they underwent SRS of BM from 2007–2017 and had imaging follow-up. We examined a cohort of 214 patients treated at the University of California San Diego (1,106 BM) and a second cohort of 148 patients (1,760 BM) treated at Karolinska Institutet. Ventriculomegaly was defined according to established morphometric criteria. Patients were grouped according to the development of new ventriculomegaly at last follow-up. Demographic, clinical, and dosimetric factors were compared between groups using univariable and multivariable logistic regressions. RESULTS: In the UCSD cohort, 63 patients (29%) presented with ventriculomegaly before SRS. Of 151 remaining patients with normal ventricular size before first SRS, 30 (20%) developed new ventriculomegaly. The odds of developing ventriculomegaly increased with history of WBRT (OR 5.247, p< 0.001) and trended toward significance with a greater number of SRS treatments (OR 1.296, p=0.075). In the Karolinska cohort, the odds of developing new ventriculomegaly trended towards significance with a greater number of SRS treatments (OR 1.605, p=0.26). To test whether this trend would achieve significance in a larger sample, we repeated the analysis in the combined cohort of 362 patients. The association between number of SRS treatments and developing ventriculomegaly reached significance (OR 1.254, p=0.049). CONCLUSIONS: These pilot findings suggest that cumulative radiation from repeat stereotactic radiosurgery (SRS) potentially increases the risk of ventriculomegaly. Based on our study, a prospective study of >350 patients will be needed to further test this hypothesis.

Levetiracetam monotherapy for treatment of structural epilepsy in dogs: 19 cases (2010–2015)

2017 ◽  
Vol 181 (15) ◽  
pp. 401-401 ◽  
Author(s):  
Darren Kelly ◽  
Francesca Raimondi ◽  
Nadia Shihab
Keyword(s):  
Side Effects ◽  
Seizure Control ◽  
Case Series ◽  
Poor Response ◽  
Response To Treatment ◽  
Seizure Freedom ◽  
Retrospective Case ◽  
Cluster Seizures ◽  
Structural Epilepsy

To evaluate the efficacy and tolerability of levetiracetam monotherapy in dogs with structural epilepsy. Retrospective case series. Nineteen client-owned dogs with structural epilepsy. Seizure frequencies after initiation of treatment were used to evaluate the efficacy of levetiracetam monotherapy. Seizure control was considered good if no seizures occurred within three months of starting treatment or poor if seizures returned within one month of starting treatment. Tolerability was evaluated by considering the occurrence and severity of any reported side effects. Ten of the 19 dogs were considered to have a good response to treatment with 7 achieving complete seizure freedom. Nine dogs were considered to have poor response to treatment. There was a statistically significant reduction in the percentage of patients experiencing cluster seizures from 68.4% to 15.8% (p=0.002). Side effects were noted in 8 of the 19 dogs but were considered mild in all cases. Follow-up times ranged from 12 days to 426 days. When used in conjunction with other appropriate therapies, levetiracetam may be an efficacious option for monotherapy in dogs with structural epilepsy. Its tolerability makes it a suitable option for use in a wide variety of patients.

scholarly journals HOUT-14. PROGNOSTIC IMPACT OF FIRST PSEUDOPROGRESSION ON MRI IN GLIOBLASTOMA, AN 11 YEARS EXPERIENCE FROM A CANADIAN UNIVERSITY CENTER

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi114-vi115
Author(s):  
Elie Zeidan ◽  
Anis Assad ◽  
Laurent Letourneau Guillon ◽  
Karl Belanger ◽  
Emilie Lemieux Blanchard ◽  
...  
Keyword(s):  
Systemic Treatment ◽  
Brain Mri ◽  
Subsequent Treatment ◽  
Response To Treatment ◽  
Prognostic Impact ◽  
Subsequent Evolution ◽  
Clinical Factor ◽  
University Center ◽  
Post Radiation

Abstract BACKGROUND In glioblastomas (GBM) patients the first post-radiation MRI is usually difficult to interpret given the post-radiotherapy enhancement and possible pseudo-progression which is present in almost 50% of the patients. METHODS We retrospectively analyzed all patients with GBM treated between 2006 and 2017 at the CHUM (SARDO database). If the first brain MRI done within 3 months after the systemic treatment showed progression of contrast, these patients were considered pseudoprogressors (PsP) while the patients who had stable or response to treatment were the non-progressors (nP). If progression persisted in subsequent MRI with a change of treatment within 6 months, they were considered early progressors (eP). If subsequent MRI improved or was stable, they were classified as nP (or true pseudo-progression). RESULTS In our cohort of 470 patients with GBM, 57.7% were nP and 42.3% were PsP after the first post-treatment imagery. The median follow-up was 10 months. The nP had a longer mOS 15.3m vs 11.3m, p < 0.001, regardless of subsequent evolution. After the second assessment, 67.8% of PsP patients were then considered as eP and 36.4% of nP patients also progressed within 6 months. The nP either after the first or second evaluation had the same mOS (19.9m vs 18.3m), just like the eP (9.3m vs 8.6m), independently of the subsequent treatment. No demographic, molecular or clinical factor predicted PsP, except for tumor size (> 5cm, p=0.024). PsP incidence was similar between 2006–2011 (PsP 57.8%) and 2012–2017 (42.2%). The 1y OS with pseudo progression at the first MRI was 39.7% vs 54.8% with no progression (p=0.001) which has a meaningful impact for the patient. CONCLUSION Pseudo-progression is frequent (42%) in glioblastoma and predicts a poorer prognosis with 1y OS of 39,7%. In fact, PsP patients have more than two-thirds chance to progress precociously.

scholarly journals Histochemical Analysis of Lacrimal Concretions in a Patient Using Rebamipide Ophthalmic Suspension: Case Report

2021 ◽  
Vol 3 (4) ◽  
pp. 1047-1052
Author(s):  
Ken Yamashita ◽  
Miki Hiraoka ◽  
Shintaro Sugita ◽  
Takatoshi Yotsuyanagi
Keyword(s):  
Amorphous Material ◽  
Drainage System ◽  
Poor Response ◽  
Response To Treatment ◽  
Cottage Cheese ◽  
Positive Staining ◽  
Chemical Studies ◽  
History Of ◽  
Layer Chromatography ◽  
Ophthalmic Suspension

AbstractConcretions of the lacrimal drainage system can cause dacryocystitis. In the present study, our patient developed dacryocystisis with lacrimal concretions of a white soft mass. Rebamipide ophthalmic suspension had been applied for treatment of dry eye. To evaluate the pathogenic mechanism of the case, histological and chemical studies were performed. Our case was woman in her seventies. She had a medical history of rheumatoid arthritis. She was referred to our hospital for dacryocystitis after showing a poor response to treatment with antibiotic agents. A head computed tomography (CT) scan showed ductal high-density deposits along the lacrimal sacs. During dacryocystotomy, the hypertrophy of the lacrimal sacs was found replete with pus and cottage cheese-like white substances. The extracts were surgically removed, and histological and chemical analysis was performed. The histological examination showed granulation tissues and acellular amorphous material with crystal-like structures. Positive staining by Alcian blue and Kossa was found in crystal-like legions. The extract obtained from the concretions showed the same fluorescence band and UV absorption spectrum in thin layer chromatography (TLC) and spectrometry, respectively, as rebamipide. Our findings suggest that the obstruction by lacrimal concretions containing rebamipide resulted in dacryocystitis in this case. In addition, it is speculated that in patients who have impaired tear secretion, refractory dacryocystitis may be evoked following the accumulation of rebamipide in the lacrimal sacs.

Clinical Experience with Ro 5-3350 (Bromazepam)

1975 ◽  
Vol 3 (3) ◽  
pp. 214-222 ◽  
Author(s):  
R Draper
Keyword(s):  
Analogue Scale ◽  
Response To Treatment ◽  
Double Blind Trial ◽  
Obsessive Compulsive ◽  
Double Blind ◽  
Taylor Manifest Anxiety Scale ◽  
History Of ◽  
Manifest Anxiety ◽  
Severe Anxiety

A pilot study using Ro 5-3350 was followed by a double-blind trial comparing Ro 5-3350 and chlordiazepoxide in a total of 25 patients who were either hospital in-patients or previous in-patients attending an out-patients follow-up clinic. The patients all had a long history of obsessive-compulsive or phobic symptoms. The visual analogue scale, the Taylor Manifest Anxiety Scale and clinical ratings were used to measure the response to treatment. In all three rating methods used, those patients who had received Ro 5-3350, chlordiazepoxide and then Ro 5-3350 in that order, consistently favoured Ro 5-3350. When the clinical ratings were examined by diagnostic groups, it was found that the phobic patients all gave favourable responses to Ro 5-3350. Two of the six patients with severe anxiety or agoraphobic states who had been treated with Ro 5-3350 over periods ranging from three to five years received the medication during the whole term of pregnancy and they were delivered of full-term normal babies. The results suggest that Ro 5-3350 (bromazepam) is a potent anxiolytic most likely to be effective in the relief of visceral manifestations of anxiety. The incidence of side-effects was low and there were no toxic effects reported.

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