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

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.

Author(s):  
FERENC KÓSZÓ ◽  
MÁRTA MORVAY ◽  
ATTILA DOBOZY ◽  
KRISZTINA BODA

On the basis of the uroporphyrinogen decarboxylase ( UD ) activity in the erythrocytes, and the family history of the disease, different types of porphyria cutanea tarda ( PCT ) can be distinguished. In some cases, however, the distinction may involve some uncertainty (overlapping of subgroups). The question arises of whether the current erythrocyte UD activities in the different types of PCT are determined merely genetically. The erythrocyte UD activities in 72 unrelated patients with different forms of PCT (62 with type I PCT and 10 with type II PCT ), in different stages of the disease, were measured in order to test whether the activity exhibits any change during the long period of recovery. In both types the activities were faintly but significantly increased, from 94.9% (in PCT I) or 54.3% (in PCT II) up to 98.4% or 56.1% respectively. In both types the lower activity in the untreated condition can be attributed to a combination of several factors, including oxidative damage to UD , which results in a minor additional inhibition of the genetically determined enzyme activities.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Chen Li ◽  
Ao-Fei Liu ◽  
Han-Cheng Qiu ◽  
Xianli Lv ◽  
Ji Zhou ◽  
...  

Abstract Background Treatment of perforator involving aneurysm (piAN) remains a challenge to open and endovascular neurosurgeons. Our aim is to demonstrate a primary outcome of endovascular therapy for piANs with the use of perforator preservation technologies (PPT) based on a new neuro-interventional classification. Methods The piANs were classified into type I: aneurysm really arises from perforating artery, type II: saccular aneurysm involves perforating arteries arising from its neck (IIa) or dome (IIb), and type III: fusiform aneurysm involves perforating artery. Stent protection technology of PPT was applied in type I and III aneurysms, and coil-basket protection technology in type II aneurysms. An immediate outcome of aneurysmal obliteration after treatment was evaluated (satisfactory obliteration: the saccular aneurysm body is densely embolized (I), leaving a gap in the neck (IIa) or dome (IIb) where the perforating artery arising; fusiform aneurysm is repaired and has a smooth inner wall), and successful perforating artery preservation was defined as keeping the good antegrade flow of those perforators on postoperative angiography. The periprocedural complication was closely monitored, and clinical and angiographic follow-ups were performed. Results Six consecutive piANs (2 ruptured and 4 unruptured; 1 type I, 2 type IIa, 2 type IIb, and 1 type III) in 6 patients (aged from 43 to 66 years; 3 males) underwent endovascular therapy between November 2017 and July 2019. The immediate angiography after treatment showed 6 aneurysms obtained satisfactory obliteration, and all of their perforating arteries were successfully preserved. During clinical follow-up of 13–50 months, no ischemic or hemorrhagic event of the brain occurred in the 6 patients, but has one who developed ischemic event in the territory of involving perforators 4 h after operation and completely resolved within 24 h. Follow-up angiography at 3 to 10M showed patency of the parent artery and perforating arteries of treated aneurysms, with no aneurysmal recurrence. Conclusions Our perforator preservation technologies on the basis of the new neuro-interventional classification seem feasible, safe, and effective in protecting involved perforators while occluding aneurysm.


Author(s):  
Rafique Umer Harvitkar ◽  
Abhijit Joshi

Abstract Introduction Laparoscopic fundoplication (LF) has almost completely replaced the open procedure performed for gastroesophageal reflux disease (GERD) and hiatus hernia (HH). Several studies have suggested that long-term results with surgery for GERD are better than a medical line of management. In this retrospective study, we outline our experience with LF over 10 years. Also, we analyze the factors that would help us in better patient selection, thereby positively affecting the outcomes of surgery. Patients and Methods In this retrospective study, we identified 27 patients (14 females and 13 males) operated upon by a single surgeon from 2010 to 2020 at our institution. Out of these, 25 patients (12 females and 13 males) had GERD with type I HH and 2 (both females) had type II HH without GERD. The age range was 24 to 75 years. All patients had undergone oesophago-gastro-duodenoscopy (OGD scopy). A total of 25 patients had various degrees of esophagitis. Two patients had no esophagitis. These patients were analyzed for age, sex, symptoms, preoperative evaluation, exact procedure performed (Nissen’s vs. Toupet’s vs. cruroplasty + gastropexy), morbidity/mortality, and functional outcomes. They were also reviewed to examine the length of stay, length of procedure, complications, and recurrent symptoms on follow-up. Symptoms were assessed objectively with a score for six classical GERD symptoms preoperatively and on follow-up at 1-, 4- and 6-weeks postsurgery. Further evaluation was performed after 6 months and then annually for 2 years. Results 14 females (53%) and 13 males (48%) with a diagnosis of GERD (with type I HH) and type II HH were operated upon. The mean age was 46 years (24–75 years) and the mean body mass index (BMI) was 27 (18–32). The range of duration of the preoperative symptoms was 6 months to 2 years. The average operating time dropped from 130 minutes for the first 12 cases to 90 minutes for the last 15 cases. The mean hospital stay was 3 days (range: 2–4 days). In the immediate postoperative period, 72% (n = 18) of the patients reported improvement in the GERD symptoms, while 2 (8%) patients described heartburn (grade I, mild, daily) and 1 (4%) patient described bloating (grade I, daily). A total of 5 patients (20%) reported mild dysphagia to solids in the first 2 postoperative weeks. These symptoms settled down after 2 to 5 weeks of postoperative proton-pump inhibitor (PPI) therapy and by adjusting consistency of oral feeds. There was no conversion to open, and we observed no perioperative mortality. There were no patients who underwent redo surgeries in the series. Conclusion LF is a safe and highly effective procedure for a patient with symptoms of GERD, and it gives long-term relief from the symptoms. Stringent selection criteria are necessary to optimize the results of surgery. Experience is associated with a significant reduction of operating time.


1981 ◽  
Author(s):  
V Sachs ◽  
R Dörner ◽  
E Szirmai

Anti human plasminogen sera of the rabbit precipitate human plasma in the agar gel diffusion test by means of intra-basin absorption with plasminogenfree human plasma with three different types: type I is represented by one strong precipitation line, type II by two lines, a big one and a small one, and type III by three slight but distinct lines. The following frequencies of the different types have been observed in a sample of 516 human plasmas: type I 65%, type II 33% and type III 2%. Suppose the types are phenotypical groups of a diallelic system where the types I and III represent the homozygous genotypes and the type II the heterozygous the estimated gene frequencies are in good agreement with the expected values. There is also a good agreement of the distribution of plasminogen groups determined by electrofocussing from RAUM et al. and HOBART. The plasminogen groups possibly may have also a biological meaning because the plasmas of type III always have a lesser fibrinolytic activity than the plasmas of the other types.


Neurosurgery ◽  
2012 ◽  
Vol 71 (3) ◽  
pp. 594-603 ◽  
Author(s):  
Bradley A. Gross ◽  
Rose Du

Abstract BACKGROUND: Hemorrhage from cerebral dural arteriovenous fistulae (dAVF) is a considerable source of neurological morbidity and even mortality. OBJECTIVE: To evaluate the natural history of cerebral dAVF. METHODS: We reviewed our own cohort of 70 dAVF and incorporated results from the literature, synthesizing pooled hemorrhage rates and evaluating risk factors for 395 dAVF in 6 studies. RESULTS: No hemorrhages occurred during 409 lesion-years of follow-up of Borden type I dAVF; however, cortical venous drainage developed in 1.4%. Like type I dAVF, type II dAVF demonstrated a female predilection and were most commonly transverse-sigmoid or cavernous. Eighteen percent of type II dAVF presented with hemorrhage (95% confidence interval [CI]: 8%-36%), and the annual hemorrhage rate was 6% (95% CI: 0.1%-19%). Borden type III dAVF demonstrated a male predilection and were most commonly tentorial or petrosal. Thirty-four percent presented with hemorrhage (95% CI: 0.4%-49%), with an annual hemorrhage rate of 10% (95% CI: 4%-20%), increasing to 21% for those with venous ectasia (95% CI: 4%-66%). The hemorrhage rate decreased to 2% for asymptomatic or minimally symptomatic type II or III dAVF (95% CI: 0.2%-8%), and increased to 10% for those presenting with nonhemorrhagic neurological deficits (95% CI: 0.9%-41%) and to 46% for those presenting with hemorrhage (95% CI: 11%-130%). CONCLUSION: Venous ectasia is a significant risk factor for hemorrhage among dAVF with cortical venous drainage. In addition, those with hemorrhagic presentation, even compared with nonhemorrhagic neurological deficit presentation, as well as Borden type III dAVF compared with type II dAVF demonstrated a trend toward greater hemorrhage rates.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1705.2-1705
Author(s):  
L. Montolio-Chiva ◽  
M. Robustillo-Villarino ◽  
A. V. Orenes Vera ◽  
M. Aguilar-Zamora ◽  
C. Vergara-Dangond ◽  
...  

Background:Psoriatic arthritis (PsA) is associated with insufficent levels of vitamin D (25OHD) and an increased cardiovascular risk. Several studies, have shown an inverse relationship between 25OHD levels and cardiovascular damage.Objectives:To study the relationship between 25OHD and vascular damage, as well as its possible influence on its progression, in patients with PsA.Methods:Pre-post longitudinal study with analytical components. PsA patients with peripheral joint involvement were included. Demographic (sex, age), clinical [follow-up time, DAPSA, current treatment, body mass index (BMI), classic vascular risk factors, vascular events] and analytical variables [atherogenic index, glomerular filtration (GF-MDRD), glycosylated hemoglobin (HbA1c), CRP, ESR, 25OHD] were collected. We considered deficient level of 25OHD <20 ng/ml and insufficient <30 ng/ml. Basal vascular risk was estimated through SCORE tool. Extracranial carotid artery was explored with an Esaote MyLab70XVG ultrasound with linear probe (7-12mHz) and an automated program that measures intima media thickness (IMT) by radiofrequency, and the presence of atheroma plaques was evaluated following Mannheim consensus. Pulse wave velocity (PWV) was measured through Mobil o graph® dispositive. IMT≥900 µ and PWV≥ 10m/s were considered as pathological values. We repeat vascular study 3 years later. Vascular damage progression was defined as the appearance of atheroma plaques during the follow-up and/or an increase in their number. Statistical analysis was performed using SPSS 22.0 program.Results:78 patients were included. Eighteen patients were excluded due to high vascular risk [previous event, diabetes type II or type I with target organ injury and/or GF-MDRD< 60 ml/min]. 57.5% were women with a mean age of 54.2 (SD 10.9) years. The mean follow-up time was 96.8 (SD 163.6) months and mean DAPSA was 10.2 (SD 8.3). 96.2% of patients had received DMARDs and 42.3% biologicals, and 42.3% took calcium and 25OHD supplements. Mean BMI was 27.5 (SD 4.7) kg/m2. 42.3% had tobacco exposure, 29.5% were hypertensive and 32% dyslipidemic. Mean SCORE was 1.6 (SD 1.8) and mean 25OHD was 27.6 (DSD 11.6) ng/ml. 28.2% patients had 25OHD deficit and 60.3 % insufficiency. At the beginning, 32.1 % of patients had atheromatous plaques with a number of plaques around 1.7 (SD 1.2), and 6.7% and 19.7% had a pathological IMT or PWV, respectively. Baseline, we had not observed any association between 25OHD and the presence of atheroma plaques, IMT or PWV. Three years later, we detected progression of vascular damage in 31.2% patients. In these patients, the existence of hypovitaminosis D was associate with the appearance of atheroma plaques (p=0.043). This association desappeared in the multivariate analysis, in which only the CRP influenced the appearance of atherome plaques (OR: 1.4, IC 95% 1.04-1.98, p=0.025).Conclusion:Low 25OHD levels are not related to vascular damage or influence a posible progression of it in our serie. As might be expected, the progression of vascular damage depends on the inflammatory load in these patients.Disclosure of Interests:L Montolio-Chiva: None declared, M Robustillo-Villarino: None declared, Ana V Orenes Vera: None declared, Marta Aguilar-Zamora: None declared, C Vergara-Dangond: None declared, I Vázquez-Gómez: None declared, Eduardo Flores: None declared, A Sendra-García: None declared, À Martínez-Ferrer: None declared, Elia Valls-Pascual Grant/research support from: Roche, Novartis, and AbbVie, Speakers bureau: AbbVie, Lilly, Pfizer, MSD, Novartis, Janssen, Bristol Myers Squibb, UCB Pharma, D Ybáñez-García Speakers bureau: Lilly, Roche, Sanofi, V Núñez-Monje: None declared, I Torner-Hernández: None declared, Juanjo J Alegre-Sancho Consultant of: UCB, Roche, Sanofi, Boehringer, Celltrion, Paid instructor for: GSK, Speakers bureau: MSD, GSK, Lilly, Sanofi, Roche, UCB, Actelion, Pfizer, Abbvie, Novartis


2021 ◽  
Vol 07 (02) ◽  
pp. 01-03
Author(s):  
Mezoun Almuhaimeed

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


2010 ◽  
Vol 76 (6) ◽  
pp. 599-605 ◽  
Author(s):  
Joshua D. Adams ◽  
Margaret C. Tracci ◽  
Sahir Sabri ◽  
Kenneth J. Cherry ◽  
John F. Angle ◽  
...  

Endoleaks are a frequent complication of thoracic endovascular aortic repair (TEVAR) and will likely increase in incidence with application of the technique to more complicated aortic anatomy and a wider range of thoracic aortic pathologies. Management generally consists of aggressive repair of Type I endoleaks; however, the natural history of Type I endoleaks after TEVAR remains largely unknown. The purpose of this study was to examine the incidence and characteristics of Type I endoleaks and to evaluate clinical outcomes of patients with Type I endoleaks after TEVAR. A single-center retrospective review was performed on all patients who underwent TEVAR over a 4-year period. Type I endoleaks were detected in 21 per cent (27 of 129) of patients on post-deployment aortography or CT angiography. During a mean follow-up of 750.63 ± 483 days, 59 per cent (16 of 27) closed spontaneously; 30 per cent (eight of 27) required secondary endovascular intervention; and 11 per cent (three of 27) have persisted with no increase in maximum aortic diameter. No patients have died or required open surgical conversion as a result of their Type I endoleak. Although accurate predictors of spontaneous resolution of Type I endoleaks have yet to be definitively characterized, our initial results suggest that it may be safe to observe small Type I endoleaks given that a large percentage resolve spontaneously and no endoleak-related deaths have occurred.


2020 ◽  
pp. 1-9
Author(s):  
Alejandro Tomasello ◽  
David Hernandez ◽  
Laura Ludovica Gramegna ◽  
Sonia Aixut ◽  
Roger Barranco Pons ◽  
...  

OBJECTIVEThe goal of this study was to evaluate the effectiveness and safety of a new noncompletely occlusive net-assisted remodeling technique in which the Cascade net device is used for temporary bridging of intracranial aneurysms.METHODSBetween July 2018 and May 2019, patients underwent coil embolization with the Cascade net device within 4 centers in Europe. Analysis of angiographic (modified Raymond-Roy classification [MRRC]) and clinical outcomes data was conducted immediately following treatment and at the 6-month follow-up.RESULTSFifteen patients were included in the study (mean age 58 ± 13 years, 11/15 [73.3%] female). Ten patients had unruptured aneurysms, and 5 presented with ruptured aneurysms with acute subarachnoid hemorrhage. The mean aneurysm dome length was 6.27 ± 2.33 mm and the mean neck width was 3.64 ± 1.19 mm. Immediately postprocedure, MRRC type I (complete obliteration) was achieved in 11 patients (73.3%), whereas a type II (residual neck) was achieved in 4 patients (26.7%). Follow-up examination was performed in 7/15 patients and showed stabilization of aneurysm closure with no thromboembolic complications and only 1 patient with an increased MRRC score (from I to II) due to coil compression.CONCLUSIONSInitial experience shows that the use of a new noncompletely occlusive net-assisted remodeling technique with the Cascade net device may be safe and effective for endovascular coil embolization of intracranial aneurysms.


2021 ◽  
Vol 6 (5) ◽  
pp. 456-464
Author(s):  
A. P. Romanchuk ◽  
◽  
O. V. Guzii ◽  
A. V. Maglyovanyi ◽  
◽  
...  

The purpose of the study was a comparative analysis of sensorimotor reactions in highly trained athletes with different types of heart rate regulation. Materials and methods. 202 highly trained male athletes aged 22.6±2.8 years, who are engaged in acyclic sports – martial arts (karate, taekwondo, kickboxing, boxing, freestyle wrestling, Greco-Roman wrestling, judo, sambo) and games (water polo, soccer) were examined. The experience in sports was 10.3±3.1 years. All studies were conducted in the pre-competition period in the morning. Based on the study of heart rate variability in athletes, the type of heart rate regulation was determined. The basis for determining the types of regulation is the classification of heart rate variability indicators, taking into account their inclusion in certain limits. Heart rate variability indicators that reflect the dual-circuit model of heart rate regulation and are used for diagnosis include: total heart rate variability – total power (ms2), very low frequency (ms2), and stress-index (e.u.), which reflect the various chains of regulatory effects on heart rate. According to certain data types, 4 groups were formed. 1 group (type I) consisted of 42 athletes, 2 (type II) – 28 athletes, 3 (type III) – 88 athletes, 4 (type IV) – 44 athletes. The study of sensorimotor function was performed using the device KMM-3. Results and discussion. It is shown that the most balanced sensorimotor reactions are in athletes with type III regulation of heart rate. The most strain sensorimotor reactions are observed in type II regulation of heart rate, which is reflected in the pronounced central asymmetry of movement control with acceleration to the left against the background of deteriorating accuracy of right (due to flexors) and left (due to extensors) limbs, and the right-hand predominance. Sensorimotor reactions are quite strain in type IV of heart rate regulation, which is characterized by slow reactions at the synaptic and peripheral levels. In type I of heart rate regulation, the disorders observed at the central level of regulation relate to the asymmetry of short-term motor memory processes, which are significantly reduced in the left hemisphere. Conclusion. The study shows that the differences in the regulatory support of heart rate in highly qualified athletes are accompanied by characteristic differences in sensorimotor function. The latter can be useful for the diagnosis and further correction of conditions associated with the development of overexertion and overtraining


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