scholarly journals Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review

2015 ◽  
Vol 42 (1) ◽  
pp. 85-90 ◽  
Author(s):  
Cas I. van der Made ◽  
Ewout J. Hoorn ◽  
Renaud de la Faille ◽  
Huseyin Karaaslan ◽  
Nine V.A.M. Knoers ◽  
...  
Keyword(s):  
Clinical Manifestation ◽  
Case Series ◽  
Renal Cysts ◽  
Fractional Excretion ◽  
Large Deletion ◽  
Current Case ◽  
Relative Contribution ◽  
Disease Subtype ◽  
Renal Magnesium Wasting ◽  
Nuclear Factor 1

Background: Autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B) is caused by a mutation in hepatocyte nuclear factor 1 homeobox beta (HNF1B). Although 50-60% of ADTKD-HNF1B patients develop hypomagnesemia, HNF1B mutations are mainly identified in patients with structural kidney defects or diabetes. Cases: The current case series describes 3 patients in whom hypomagnesemia proved to be the first clinical manifestation of ADTKD-HNF1B. All patients presented with hypomagnesemia with a high fractional excretion of Mg2+ and hypocalciuria. Exome sequencing performed for analysis of known and candidate hypomagnesaemia genes and subsequent multiplex ligation-dependent probe amplification analysis revealed a large deletion at the chromosome 17q12. Follow-up analysis showed increased blood glucose concentrations in all 3 patients and high hemoglobin A1c levels in 2 out of 3 patients, indicating diabetes mellitus. Although all patients suffered from mild renal insufficiency, only 1 of the 3 patients was shown to have renal cysts on CT. Conclusion: The prevalence of HNF1B mutations and the relative contribution of hypomagnesemia to its symptoms are underestimated. Therefore, patients with primary renal magnesium wasting should be tested for HNF1B mutations to ensure early detection and optimal management of ADTKD-HNF1B.

scholarly journals Cryptoccal meningitis in non-HIV, non-organ transplant diabetic patients

2021 ◽  
Vol 8 (4) ◽  
pp. 591
Author(s):  
Sneha Biradar ◽  
Balakrishna Teli
Keyword(s):  
Human Immunodeficiency Virus ◽  
Organ Transplant ◽  
Case Series ◽  
Central Nervous System Disease ◽  
Diabetic Patients ◽  
Immunocompromised Patients ◽  
Current Case ◽  
Infected People ◽  
System Disease ◽  
Immunodeficiency Virus

Cryptococcosis is an important opportunistic fungal infection and also cause of death due to central nervous system disease among patients with human immunodeficiency virus worldwide. Most of the cases occur in immunocompromised patients like HIV infected people, people with organ transplants and on immunosuppressants. Nowdays there is increase in cases of cryptoccal meningitis among diabetic patients. Current case series includes cryptococcal meningitis among diabetic patients after ruling out of other immunocompromised states. 

scholarly journals Ultrasonic Tenotomy and Debridement for Calcific Tendinopathy of the Shoulder: A Pilot Case Series

2020 ◽  
Vol 11 ◽  
pp. 215013272096466
Author(s):  
Jacob L. Erickson ◽  
Andrew R. Jagim
Keyword(s):  
Rotator Cuff ◽  
Sports Medicine ◽  
Treatment Options ◽  
Case Series ◽  
Invasive Treatment ◽  
Effective Treatment Option ◽  
Current Case ◽  
Calcific Tendinopathy ◽  
Pain Scores ◽  
Post Procedure

Calcific tendinopathy of the rotator cuff is a common cause of shoulder pain and debility. Minimally invasive treatment options have been employed for management; however, ultrasonic tenotomy has not been previously described for management of calcific tendinopathy of the shoulder. The purpose of the current case series was to provide preliminary evidence in support of a novel treatment modality for calcific tendinopathy of the rotator cuff. This descriptive pilot case series included a total of 8 patients with calcific tendinopathy of the supraspinatus that underwent ultrasound-guided ultrasonic debridement in the sports medicine clinic. All procedures were performed by the same physician (JLE). All patients had confirmation of the diagnosis with MRI and ultrasound imaging. Pain was measured pre-procedure and followed until 3-months post-procedure. Very large, statistically significant, reductions (P < .01) in pain scores were observed at 1 (ES = 1.93), 2 (ES = 1.84) and 3 (ES = 2.20) months post-procedure, respectively. All patients experienced a significant reduction in pain scores, regardless of hardness of the calcium deposit, at 1 month post-procedure with pain scores remaining lower than at baseline at 2 and 3 months post-procedure. No adverse events were noted in any patients. Ultrasonic tenotomy and debridement appears to be a safe and effective treatment option for patients with calcific tendinopathy of the supraspinatus.

Rapid amelioration of severe manic episodes with right unilateral ultrabrief pulse ECT: a case series of four patients

2016 ◽  
Vol 25 (1) ◽  
pp. 10-12 ◽  
Author(s):  
Alexey Sidorov ◽  
Prashanth Mayur
Keyword(s):  
Electroconvulsive Therapy ◽  
Clinical Global Impression ◽  
Treatment Efficacy ◽  
Rating Scale ◽  
Case Series ◽  
Inadequate Response ◽  
Young Mania ◽  
Dramatic Decrease ◽  
Current Case ◽  
Significant Clinical Improvement

Objective: The aim of this small case series is to describe four cases of severe mania, where ultrabrief pulse electroconvulsive therapy (ECT) was used as a primary mode of treatment. Methods: A retrospective file review was undertaken of four patients identified as having received ultrabrief pulse ECT for severe mania. The outcome measures for treatment efficacy were the Young Mania Rating Scale (YMRS) and Clinical Global Impression (CGI). Results: All the patients showed significant clinical improvement. A comparison of pre- and post-treatment YMRS and CGI scores showed a dramatic decrease in all four cases. However, one patient was shifted to brief pulse ECT due to inadequate response. Conclusions: Ultrabrief pulse ECT may be an effective treatment in cases of severe mania. Due to the very small number of cases in the current case series, no specific conclusions regarding efficacy may be drawn; however, larger, controlled studies would be indicated.

A case series: Efficacy of short term EMDR on patients with persistent complex bereavement disorder (PCBD)

2017 ◽  
Vol 41 (S1) ◽  
pp. S360-S361
Author(s):  
F.D. Usta ◽  
A.B. Yasar ◽  
A.E. Abamor ◽  
M. Caliskan
Keyword(s):  
Sleep Disturbances ◽  
Case Series ◽  
Traumatic Loss ◽  
Degree Relative ◽  
Current Case ◽  
Prolonged Grief ◽  
Persistent Complex Bereavement ◽  
Competing Interest ◽  
Persistent Complex Bereavement Disorder ◽  
Emdr Therapy

Grief is a normal response to loss of someone to whom a bond was formed; however, prolonged grief is considered pathological. Persistent complex bereavement disorder (PCBD) is defined as a persistent longing for the deceased over 12 months. Several treatment ways have been used for traumatic loss including eye movement desensitization and reprocessing (EMDR). In the current case series, effectiveness of EMDR on three PCBD patients will be indicated. Three patients applied to the clinic with similar complaints based on different traumatic backgrounds; commonly, all experienced death of a first-degree relative. Complaints of the patients were over-thinking about the deceased, sleep disturbances, self-blaming, social isolation, avoiding talks about lost relative, and loss of interest in activities. After pre-interviews, they were advised EMDR therapy. One session of EMDR was applied to two of the patients, and two EMDR sessions were conducted on one of them. After the sessions, the patients reported not feeling guilty about the loss anymore, returning their normal routines, feeling better, and showing decreased avoidance. Additionally, the scores of scales (CAPS, BAI, BDI, and IES-R) significantly declined. EMDR therapy can show successful results in a shorter time than other treatment ways used for PCBD treatment [1].Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals How joint line orientation affects the amount of bone resected in mechanically aligned TKA: a retrospective clinical-radiographic correlational study

2021 ◽  
Author(s):  
Zhiwei Wang ◽  
Yang Yu ◽  
Liang Wen ◽  
Desi Ma ◽  
Tiebing Qu
Keyword(s):  
Weight Bearing ◽  
Case Series ◽  
Joint Line ◽  
Line Orientation ◽  
Mechanical Alignment ◽  
Bone Resection ◽  
Current Case ◽  
Technical Parameters ◽  
Knee Oa ◽  
Total Knee

Abstract Background: Discrepancies in bone resection between the medial and lateral compartments is very common in total knee replacement (TKA) when mechanical alignment (MA) is used. The purpose of this study was to explore whether and how joint line orientation affects the gross amount of bone resected in mechanically aligned TKA.Methods: A total of 112 patients (137 knees) diagnosed with osteoarthritis (OA) were included. Bone resection simulations were conducted in the coronal view using full-length weight-bearing radiographs per the technical parameters of MA, and the feasibility of simulated osteotomy was verified via intraoperative caliper measurement. Correlation and regression analyses were conducted comparing the amount of bone resected and various parameters, including hip-knee-ankle (HKA) angle, mechanical lateral distal femoral angle (mLDFA), joint line congruency angle (JLCA), and medial proximal tibial angle (MPTA). Moreover, any intraoperative bone resection adjustments that were made were retrospectively collected using a medical record query system.Results: All knees in the current case series could be artificially divided into 4 subgroups: 84 varus knees (61.3%) with valgus femurs in subgroup 1, 32 varus knees (23.4%) with varus femurs in subgroup 2, 14 valgus knees (10.2%) with varus tibias in subgroup 3, and 7 valgus knees (5.1%) with valgus tibias in subgroup 4. Simulated bone resection thickness was highly consistent with intraoperative measurements. MPTA and mLDFA were positively correlated with the amount of bone resected in subgroup 1. The regression equation was: Maximum resection thickness (mm) = 0.556*mLDFA (deg.) + 0.098*MPTA (deg.) -39.74; R2=0.808. Similarly, intraoperative bone resection adjustments also showed a correlation with mLDFA in subgroup 1.Conclusions: Deformities in knee OA can be divided into 4 subgroups based on the alignment of extremities and the joint line orientation. When TKA is performed in varus knees with valgus femurs using conventional instruments and mechanical alignment techniques, the amount of bone resected in the coronal plane demonstrates a linear relationship with the patient’s mLDFA.

scholarly journals A retrospective investigation of twenty-five cases with periocular pilomatrixoma

2021 ◽  
Author(s):  
Wei Song ◽  
Zhenyi Ma
Keyword(s):  
Case Series ◽  
Neck Region ◽  
Giant Cells ◽  
Skin Tumor ◽  
Current Case ◽  
Complete Surgical Resection ◽  
Department Of Ophthalmology ◽  
Clinical Conditions

Abstract Purpose Pilomatrixoma is an uncommon benign skin tumor, developing from hair follicle matrix. It consistently presents in the head and neck region patients with pediatric predominance, from infancy to senior. Thus far, few case series studies have been focused on the periocular lesions that involve the eyelid and eyebrow. In the present study, we carried out a case series with 25 patients of periocular pilomatrixoma. Methods Records from the Hospital Information System (HIS) of our hospital were reviewed retrospectively between the years 2009 and 2020 to search for all patients that were diagnosed as pilomatrixoma of eyelid or eyebrow. All patients received excision in the Department of Ophthalmology and histological examinations in the Department of Pathology. Patients’ information and characterization of tumors features were recorded and analyzed. Results These clinical conditions were mostly found in female patients in their early twenties. All tumors developed at upper eyelids or eyebrows and both right and left sides were equally affected. Basophilic cells and shadow cells were the basic components of the lesions, with or without calcification and foreign body giant cells. Complete surgical resection was the essential therapeutical approach for this disease and no recurrence or malignant transformations were noticed upon follow-up. Conclusion The findings of current case series analysis are in concordance with the clinical and histopathological features of periocular pilomatrixoma.

Severe Renal Osteodystrophy Without Elevated Serum Immunoreactive Parathyroid Hormone Concentrations in Hypomagnesemia Due to Renal Magnesium Wasting

PEDIATRICS ◽  
1987 ◽  
Vol 79 (3) ◽  
pp. 403-409
Author(s):  
Israel Zelikovic ◽  
Shermine Dabbagh ◽  
Aaron L. Friedman ◽  
Mark L. Goelzer ◽  
Russell W. Chesney
Keyword(s):  
Renal Failure ◽  
Parathyroid Hormone ◽  
Elevated Serum ◽  
Fractional Excretion ◽  
Calcium Deficiency ◽  
Deficiency Rickets ◽  
Renal Magnesium Wasting ◽  
Magnesium Excretion ◽  
Moderate Renal Failure ◽  
Immunoreactive Parathyroid Hormone

An 8½-year-old girl presented with a long history of seizures, growth retardation, muscle weakness, gait disturbance, and hearing loss. Her evaluation revealed chronic moderate renal failure (serum creatinine 2.2 mg/dL), severe hypocalcemia (5 mg/dL), hyperphosphatemia (8.1 mg/dL), hypomagnesemia (1.5 mg/dL), increased urinary magnesium excretion (2 mg/kg/d), high fractional excretion of magnesium (21.7%), hypokalemia (3.2 mEq/L), and hyperkaliuria (26 mEq/L). Low circulating immunoreactive parathyroid hormone levels for the degree of the hypocalcemia (serum N-parathyroid hormone 212 pg/mL) and severe rickets without evidence of osteitis fibrosa cystica were found. The patient probably has primary renal leak hypomagnesemia (magnesuric hypomagnesemia) which caused impaired secretion of immunoreactive parathyroid hormone leading to severe hypocalcemia and calcium deficiency rickets. Treatment with magnesium and calcium supplements, calcitriol, and aluminum hydroxide resulted in marked clinical, biochemical, and radiologic improvement. Calcium deficiency rickets due to primary or secondary renal magnesium wasting in conjunction with moderate renal failure represents a largely unrecognized metabolic bone disease.

Laparoscopic Simultaneous Treatment of Peripelvic Renal Cysts and Stones: Case Series

2009 ◽  
Vol 23 (11) ◽  
pp. 1851-1856 ◽  
Author(s):  
Salvatore Micali ◽  
Giovannalberto Pini ◽  
Maria Chiara Sighinolfi ◽  
Stefano De Stefani ◽  
Filippo Annino ◽  
...  
Keyword(s):  
Case Series ◽  
Renal Cysts ◽  
Simultaneous Treatment

scholarly journals Laparoscopic treatment of symptomatic simple renal cysts in children: single-center experience

2018 ◽  
Author(s):  
Antonio Marte ◽  
Lucia Pintozzi
Keyword(s):  
Operating Time ◽  
Case Series ◽  
Renal Cysts ◽  
Laparoscopic Treatment ◽  
Ultrasound Guided ◽  
Cytological Examination ◽  
Single Center Experience ◽  
Urinary Tract Symptoms ◽  
The Mean

Simple renal cysts, although common in adults, are rare in children. They are usually discovered incidentally in the course of the study of other urinary tract symptoms, although they are not always asymptomatic. Renal cysts can be classified as being either simple or complex. The purpose of this review is to present our case series of simple symptomatic renal cysts treated with laparoscopy. Nineteen patients with symptomatic renal cysts (6 to 13.5 cm) were referred to our institution between January 2006 and January 2017. They comprised 12 (40.5%) females and seven (59.5%) males, aged 8 to 15, with a mean age of 12.2 years. Of these patients, nine had previously been treated unsuccessfully by ultrasound-guided aspiration/alcoholization with 95%-ethanol, between 9 and 13 months prior to the laparoscopy. Five patients had undergone one treatment and four had undergone two treatments. All of the patients were treated by laparoscopic threetrocar deroofing. The cysts were opened and the wall excised using scissors and a monopolar hook. In most cases, to better handle the edges of the cyst and obtain a better grip, a needle was used to aspirate a small amount of fluid (used for cytological examination). The wall of the cyst was excised, the cyst edges were sealed, and the perirenal fat was placed on the bottom of the cyst (wadding technique). The mean operating time was 95 minutes (range 50- 150). The postoperative course was uneventful for all of the patients. The hospital stay ranged from one to three days. All of the patients were asymptomatic following the treatment. At a mean follow-up time of 3.6 years, none of the patients had experienced a recurrence. Renal function, as assessed by a MAG3 renal scintigraphy scan, was well-preserved in all of the patients, and all of them undergo an annual ultrasound scan.

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