A case series of the twiddler syndrome
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PROVIDER: S-EPMC10794872 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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| S-EPMC4651966 | biostudies-literature
Project description:Introduction and importanceLead dislodgement syndromes (Twiddler, Ratchet or Reel syndromes) are rare causes of cardiac stimulation device malfunction that can occur most commonly early after device implantation. Each one of them associated with a unique pattern of lead coiling and dysfunction. Our clinical case reports an unusual association and shed the light on the available diagnostic modalities.Case presentationA 62-year-old woman who was referred to our hospital for a symptomatic high degree AV block, she underwent dual chamber pacemaker implantation. She experienced 3 weeks following implantation a rhythmic twitching of the right arm without syncope. The device interrogation revealed an increase in both leads pacing impedance and chest X-ray showed leads had pulled out of the heart and were tangling and wrapped repeatedly around the pulse generator. Revision procedure was performed to reposition the leads.Clinical discussionRecognizing this complication early can prevent life threatening complication and is then of the utmost importance. Twiddler's syndrome is due to rotation of the device along its long axis. Reel syndrome is produced by device rotation along the transverse axis. In most cases, lead replacement or reposition is needed. Preventive measures such as patient education and use of a smaller pocket will reduce the risk of developing the syndrome.ConclusionOur case highlights the available diagnostic modalities for early detection of twiddler's syndrome. The unique nature of this case increases the importance of considering device lead dislodgement as the cause for patients presenting with extra-cardiac symptoms.
| S-EPMC9793224 | biostudies-literature
Project description:PurposeThis case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome. Observations. Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture. Glaucoma was controlled medically. Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis. After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft. Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture. Glaucoma in both eyes was controlled medically. Case 3 was the 2-year-old sister of the 2nd case. She had a pachymetry of 238 μm OD and 254 μm OD and 254 .ConclusionsLong-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.
| S-EPMC7109549 | biostudies-literature
Project description:This is a retrospective analysis of children diagnosed with Bartter's syndrome (BS) between 2001 and 2009 in our hospital. Seven children (six males) were diagnosed with BS. The mean age at presentation was 6.5 ± 4.9 months. The presenting features were failure to thrive,vomiting, polyuria, and dehydration. All children were normotensive at admission. The children exhibited alkalemia (pH, 7.58 ± 0.03), hypokalemia (serum potassium, 2.62 ± 0.47 mEq/l), hypochloremia (serum chloride, 82.83 ± 16.7 mEq/l), and hyponatremia (serum sodium, 126.85 ± 3.56 mEq/l). Disproportionate urinary wasting of sodium, potassium, and chloride were seen. The diagnosis was confirmed by elevated serum levels of both renin and aldosterone with normotension. Indomethacin or ibuprofen therapy resulted in marked improvement in general condition of these children. In conclusion, a high index of suspicion should be entertained in children with failure to thrive to diagnose BS. Therapy with NSAIDs leads to marked improvement in the general well being.
| S-EPMC3008951 | biostudies-other
Project description:To evaluate the Radial Reload Stapler during laparoscopic low anterior resection (LAR) or anterior proctosigmoidectomy for rectal cancer by assessing the primary and secondary endpoints.
| 2133579 | ecrin-mdr-crc
Project description:Deep brain stimulators (DBS) may fail for a multitude of reasons. We present a 79-year-old Parkinson's disease patient who suffered a DBS failure following impulse generator (IPG) replacement surgery due to the IPG flipping within an expanded capsular pocket. This creation of the pocket was unintentional, and the pocket formed around an undiagnosed postoperative hemorrhage. The syndrome could be considered "Twiddler-like" because it resulted in device flipping. There were, however, many characteristic differences between our case and classical Twiddler's syndrome. DBS neurostimulator failure due to hematoma induced device flipping should be suspected when device interrogation is impossible or there are abnormally high impedances across multiple DBS lead contacts. A plain film X-ray series should be ordered and can be useful in providing radiological evidence of device flipping. In cases like ours the extensive braiding encountered in Twiddler's syndrome may be absent. Anchoring the IPG to a deep fascial layer as well as the use of an antimicrobial pouch are two methods that may be employed to prevent or to treat this complication.
| S-EPMC10161199 | biostudies-literature
Project description:Neuroleptic malignant syndrome (NMS) is a rare and rapidly progressive syndrome with mortality rate of 5.6%. The spectrum of onset, progression and outcome is heterogeneous and is associated with number of risk factors. In our case series, we entail the triggers, hospital course and outcome of five interesting in-patient cases that were admitted to our service in a tertiary care hospital in Northern India. This case series is to highlight the first ever reported case of NMS triggered by levosulpiride administration, along with one of the few first cases of NMS after programming of DBS, hypothyroid disorders, levodopa readjustment and selective basal ganglia and cerebellar injury following the hyperthermic syndrome. This is also to bring to attention of clinicians worldwide the atypical risk factors of NMS, and stress the importance of staying vigilant for the same by frequent follow-ups and high degree of clinical suspicion. We also aim to generate epidemiological data about these atypical triggers.
| S-EPMC9511852 | biostudies-literature
Project description:Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
| S-EPMC10537044 | biostudies-literature
Project description:Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare genetic condition characterised by hypoplastic amelogenesis imperfecta, failed tooth eruption, intra-pulpal calcifications, gingival enlargement and occasionally nephrocalcinosis. In this case series, we report on four unrelated patients with a confirmed molecular diagnosis of ERS (FAM20A pathogenic variants) from Sub-Saharan Africa. The pathognomonic oral profile of ERS was mostly fulfilled in these patients, with the notable addition of an odontoma in one patient. The cases presented a spectrum of phenotypic severity both dentally and systemically. One patient presented with nephrocalcinosis and abnormal kidney function, one had reduced kidney size with normal kidney function, and two had no renal abnormalities. Patients presenting with the oral profile of ERS should receive a prompt referral to a nephrologist and a geneticist. They should receive long-term management from a multidisciplinary medical and dental team.
| S-EPMC10477592 | biostudies-literature
Project description:Cardiac tamponade is a medical emergency requiring prompt recognition and intervention to avoid potentially fatal consequences. We present a case series of ventricular dysfunction and cardiogenic shock following pericardiocentesis in 3 patients with pericardial effusions at The Ottawa Hospital between 2014 and 2020. This report highlights the need for monitoring post-pericardiocentesis and raises awareness of this phenomenon, particularly in patients with malignancy. We propose a novel pressure-monitoring protocol to guide drainage and prevent development of pericardial decompression syndrome. The novel teaching points include limiting drainage to prevent development of pericardial decompression syndrome and a protocol for intra-pericardial pressure monitoring.
| S-EPMC9039552 | biostudies-literature