OpenMed/multicare-articles huggingface dataset:
Third-generation antipsychotics in patients with schizophrenia and non-responsivity or intolerance to clozapine regimen: What is the evidence?
Authors: Octavian Vasiliu
Journal: Front Psychiatry (2022)
Keywords: aripiprazole, brexpiprazole, cariprazine, clozapine, lumateperone, schizophrenia, third-generation antipsychotics, treatment resistance
MeSH terms: Review

Clozapine is considered « the golden standard » for the management of treatment-resistant schizophrenia, but many patients do not present adequate responsivity even to this antipsychotic. If we add the need to strictly monitor the hematologic and cardiometabolic adverse events during each clozapine trial and the difficulty of preserving therapeutic adherence in patients with low insight, residual negative/positive symptoms, or economic challenges, then the necessity of exploring alternative interventions for these patients becomes obvious. Also, in case of intolerance to clozapine or where clozapine did not induce remission, clinicians have to find new ways to help their patients. Switching to other antipsychotics or using these agents as add-ons to clozapine are the main interventions explored in this review, for patients with schizophrenia resistant to clozapine (ultra-resistant schizophrenia, URS). When clozapine intolerance is detected, conversion to another antipsychotic with distinct pharmacologic properties or formulation (e.g., long-acting intramuscular injectable agents, LAI) may be a useful option. Third-generation antipsychotics (TGA) have been selected for their distinct pharmacodynamically profile, which allows, at a theoretical level, their use in combination with clozapine. This narrative review is based on searching four electronic databases, that retrieved 19 primary and secondary reports on aripiprazole (seven case reports or case series presenting 24 patients; nine clinical trials, and three systematic reviews/meta-analyses), two primary reports on brexpiprazole (case report and case series, N = 3 patients), and six primary reports on cariprazine (case reports and case series, N = 14 patients). Based on the information collected from these reports, which included oral and LAI formulations, the TGA most supported by evidence for the augmentation of clozapine is aripiprazole (high-and medium-quality data), followed by cariprazine (low-quality data). Brexpiprazole has not yet been systematically explored for this indication, and in the case of lumateperone, no report could be found. The efficacy of aripiprazole and cariprazine was supported in the domains of positive, negative, and general symptoms, and aripiprazole may positively impact the metabolic profile in patients with URS. Also, adding TGA may lead to a decrease in the dose of clozapine concomitantly administered. More data derived from good quality research are needed in order to confirm the circumstances of TGAs recommendation in patients with URS, either as monotherapy, or added to clozapine.
Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
Authors: Zhao-Xia Wang, Yi-Hui Liu, Yi Dong, Ya-Li Li, Tie-Yu Tang, Liang-Liang Fan
Journal: Biomed Res Int (2021)
MeSH terms: Consanguinity, Exome Sequencing, Frameshift Mutation / genetics, Genetic Loci, Hermanski-Pudlak Syndrome / genetics, Case Reports, Aged, Base Sequence, Family, Female, Homozygote, Humans, Intracellular Signaling Peptides and Proteins / genetics, Male, Pedigree, Platelet Aggregation, HPS3 protein, human, Intracellular Signaling Peptides and Proteins

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis. At present, mutations in ten known genetic loci (HPS1-11) have been identified to be the genetic cause of HPS. In this study, we enrolled a consanguineous family who presented with typical HPS phenotypes, such as albinism, visual impairment, nystagmus, and bleeding diathesis. Whole-exome sequencing and Sanger sequencing were applied to explore the genetic lesions of the patient. A novel homozygous frameshift mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 was identified and cosegregated in the family members. Furthermore, real-time PCR confirmed that the mutation decreased the expression of HPS3, which has been identified as the disease-causing gene of HPS type 3. According to ACMG guidelines, the novel mutation, resulting in a premature stop codon at amino acid 442, is a pathogenic variant. In summary, we identified a novel mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 in a family with HPS. Our study expanded the variant spectrum of the HPS3 gene and contributed to genetic counseling and prenatal genetic diagnosis of the family.
Clinical investigation in non-liver cirrhosis portosystemic shunt encephalopathy-four case series
Authors: Fumika Azuma, Kazuya Nokura, Tetsuharu Kako, Yoshihiko Horimoto, Eiichi Katada, Naohide Kondo, Yasuhiro Ito
Journal: Fujita Med J (2021)
Keywords: encephalopathy, hyperammonemia, interventional radiology, portosystemic shunt

We reported here four cases presenting with disturbance of consciousness over long periods of time and hyperammonemia. Two patients were on maintenance hemodialysis. Contrast-enhanced computed tomography (CT) of abdomen and balloon-occluded retrograde contrast venography revealed existence of a non-cirrhotic portosystemic shunt. Conservative treatment such as intravenous branched-chain amino acid administration and oral lactulose administration had only a modest effect in all patients. Improvements in symptoms were observed following the occlusion of the shunt path in three patients. Measurements of ammonia values would be the most important test for screening, but changes in Fischer's ratio or indocyanine green (ICG) test values were also correlated with clinical symptoms. Neurologists should keep in mind the possibility of non-cirrhotic portosystemic shunts when they encounter patients with disturbance of consciousness. They should also remember that occlusion of the shunt pathway is an effective treatment.
Delusional parasitosis in a female treated with mixed amphetamine salts: a case report and literature review
Authors: Martha Buscarino, Jaime Saal, Joel L Young
Journal: Case Rep Psychiatry (2012)

Objectives. To explore factors underlying the onset of delusional parasitosis; a condition in which an individual has a fixed, false belief that he/she is infested with insects. Case Description. MJ is a 57-year-old female who presents with symptoms of fatigue and AD/HD. Upon treatment with extended release mixed amphetamine salts, the patient displayed symptoms of delusional parasitosis. After eventual discontinuation of this medication, her delusions resolved. Comments. In order to maintain confidentiality, all identifying information was removed. To this end, please note that MJ is a fictitious name.
A Case of Metastatic Melanoma in the Ureter
Authors: James Macneil, Tania Hossack
Journal: Case Rep Urol (2016)

Advances in the treatment of melanoma are resulting in patients living for extended periods after being diagnosed with metastatic disease. Metastases to the ureter are rare, but they have been described in the literature on a number of occasions. In this case report, we describe a patient with established metastatic melanoma who, whilst taking and responding to immunomodulatory therapy, was found to have an obstructive mass in the middle of his left ureter. Rather than performing either a nephroureterectomy or partial resection of the ureter, we opted to perform an endoscopic resection of the melanoma. Follow-up imaging at 12 months shows no evidence of local disease recurrence. We submit that primary endoscopic management of metastatic melanoma in the ureter is a viable alternative to a radical approach.
Mild clinical presentation of acute Fatty liver in the second trimester of pregnancy
Authors: Alaeddine Yassin, Walid Denguezli, Anissa Fessi, Leila Njim, Raja Falah, Abdelfattah Zakhama, Mohamed Sakouhi
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

We report a case of 29 years old woman who was diagnosed with acute fatty liver of pregnancy at 23 weeks of gestation with unusual evolution (pregnancy prolonged until 36 weeks of gestation) to draw attention on the possibility of occurrence of this pathology in the second trimester of pregnancy even with a milder clinical presentation and course.
Successful treatment of liver aspergilloma by caspofungin acetate first-line therapy in a non-immunocompromised patient
Authors: Qing-Xian Bai, Yi Huan, Jian-Hong Wang, Li-Jie Yang, Hong-Juan Dong
Journal: Int J Mol Sci (2012)
Keywords: aspergillus fumigatus, aspergillosis, caspofungin acetate, liver
MeSH terms: Antifungal Agents / therapeutic use, Aspergillosis / drug therapy, Aspergillus fumigatus / isolation & purification, Echinocandins / therapeutic use, Liver / microbiology, Case Reports, Anemia, Aplastic / complications, Aspergillosis / complications, Aspergillosis / diagnosis, Caspofungin, Female, Humans, Lipopeptides, Liver / diagnostic imaging, Middle Aged, Radiography, Antifungal Agents, Echinocandins, Lipopeptides, Caspofungin

Aspergillosis remains to be a life-threatening complication in immunocompromised patients. However, Aspergillus infection can be observed in non-immunocompromised individuals in rare cases. We report a case of liver aspergilloma in a chronic aplastic anemia patient under relatively intact immune status. Therapeutic strategy for this rare condition was extensively discussed and caspofungin acetate single agent first-line therapy was applied after careful consideration. Encouraging clinical and radiologic improvements were achieved in response to the antifungal salvage. Our long-term follow-up study also revealed a favorable prognosis. Based on this experience, we suggest caspofungin acetate as first-line therapy for treatment plans of liver aspergilloma.
Pancreatic Mass in a Patient with a History of Resected Renal Cell Carcinoma and Resected Adenocarcinoma of the Ampulla of Vater: A Case Report
Authors: Sarah M Kling, Sami Tannouri, Wei Jiang, Charles J Yeo
Journal: J Pancreat Cancer (2018)
Keywords: metastases, pancreatic adenocarcinoma, renal cell carcinoma
MeSH terms: Case Reports

Background: Metastases of renal cell carcinoma (RCC) to the pancreas are rare, whereas recurrence of pancreatic ductal adenocarcinoma (PDA) or a primary periampullary cancer is far more common. The time elapsed between a primary tumor and a new mass can aid in differentiation between the two. Presentation: A 70-year-old man with a history of RCC status after left nephrectomy and ampullary adenocarcinoma status after pancreaticoduodenectomy presents with an incidentally found mass in his remnant pancreas. Resection of the mass via completion pancreatectomy yielded pathology consistent with metastatic RCC. Conclusions: Metastases of RCC to the pancreas often present many years after a primary resection. Conversely, recurrent PDA often presents within 5 years of resection. Resection of RCC metastases yields better survival than resection of recurrent PDA, which is controversial. We recommend resection of suspected isolated pancreatic RCC metastases due to known favorable outcomes.
A challenging case of a large gastroduodenal artery pseudoaneurysm after surgery of a peptic ulcer
Authors: Rocio Santos-Rancaño, Esteban Martín Antona, José Vicente Méndez Montero
Journal: Case Rep Surg (2015)

We report a 48-year-old man in whom a chronic postbulbar duodenal ulcer destroyed much of the back wall of the duodenum and gastroduodenal artery causing pseudoaneurysm. The lesion was found and evaluated by contrast-enhanced computed tomography (that revealed a large pseudoaneurysm of 83 mm × 75 mm in diameter) and by angiography and then treated with transcatheter embolization leading to a complete resolution of the lesion. The case is rare and important for several reasons. First, we demonstrate that pseudoaneurysm of the gastroduodenal artery caused by a duodenal ulcer can occur and present a diagnostic challenge (as far as we know, only three cases have been reported previously in the literature). Second, this case report focuses on the importance of ligation of the gastroduodenal artery when bleeding of peptic ulcers occurs. Additionally, we present an overview of the relevant literature.
Repair of diaphragmatic hernia following spinal surgery by laparoscopic mesh application: a case report and review of the literature
Authors: Roberto Bini, Diego Fontana, Alessandro Longo, Paolo Manconi, Renzo Leli
Journal: World J Emerg Surg (2014)
Keywords: diaphragmatic hernia, laparoscopic repair, mesh repair, surgical complication
MeSH terms: Review

We describe the laparoscopic management of diaphragmatic hernia (DH) caused by vertebral pedicle screw displacement. A 58-year-old woman underwent surgery for scoliosis and underwent posterior pedicle screw fixation. In the first postoperative (PO)day, she developed mild dyspnea. An anteroposterior chest radiograph revealed bilateral pleural effusion, which was more pronounced on the left side. A thoracoabdominal computed tomography (CT) scan, performed in the second PO day, revealed a solid mass in the pleural cavity that was associated with screw displacement, which had also entered into the peritoneal cavity without apparent other lesion of hollow and solid viscous. In the third PO day, after the screw was removed, explorative laparoscopy was carried out. We observed herniation of the omentum through a small diaphragmatic tear. Once the absence of visceral injury was confirmed, we reduced the omentum into the abdomen. Then, we repaired the hernia by applying a dual layer polypropylene mesh over the defect with a 3-cm overlap. The remainder of the postoperative period was uneventful. Iatrogenic DH due to a pedicle screw displacement has never been described before. In cases of pleural effusion following spinal surgery, rapid assessment and treatment are crucial. We conclude that a laparoscopic approach to iatrogenic DH could be feasible and effective in a hemodynamically stable patient with negative CT findings because it enables the completion of the diagnostic cascade and the repair of the tear, providing excellent visualization of the abdominal viscera and diaphragmatic tears.
Postoperative Nocardia Endophthalmitis and the Challenge of Managing with Intravitreal Amikacin
Authors: Sikander A K Lodhi, G Ashok Kumar Reddy, C Aruna Sunder
Journal: Case Rep Ophthalmol Med (2016)

Nocardia is a rare cause of delayed onset postoperative endophthalmitis after cataract surgery and it usually carries a guarded visual prognosis. Purpose. To highlight the clinical presentation, microbiological profile, and treatment outcome in a case of nocardial endophthalmitis after manual small incision cataract surgery. Methods. This case report highlights the typical features of Nocardia endophthalmitis, which presented six weeks after undergoing small incision cataract surgery. The case was managed by pars plana vitrectomy with intravitreal antibiotics. Intravitreal amikacin was used based on microbiologic work-up. Results. The endophthalmitis part was controlled but the case developed amikacin induced macular infarction which jeopardized a good visual outcome. Conclusion. Nocardia endophthalmitis manifests late after cataract surgery in an aggressive manner and carries a poor visual prognosis. An early diagnosis and the use of correct antibiotic regimen may salvage the vision. But the present case shows that one should always be wary of potential retinal toxicity with intravitreal amikacin.
Chemo-Radiotherapy of Oligometastases of Colorectal Cancer With Pegylated Liposomal Mitomycin-C Prodrug (Promitil): Mechanistic Basis and Preliminary Clinical Experience
Authors: Esther Tahover, Rachel Bar-Shalom, Eli Sapir, Raphael Pfeffer, Igor Nemirovsky, Yehonatan Turner, Maya Gips, Patricia Ohana, Benjamin W Corn, Andrew Z Wang, Alberto A Gabizon
Journal: Front Oncol (2018)
Keywords: colorectal cancer, liposomes, mitomycin-c, oligometastases, prodrug, radiosensitizer, radiotherapy
MeSH terms: Case Reports

Hypo-fractionated radiotherapy and stereotactic body radiotherapy are viable options for treatment of oligometastases. A prodrug of mitomycin-C is under clinical testing as a pegylated liposomal formulation (Promitil) with an improved safety profile over mitomycin-C. Promitil was offered to two patients with oligometastases from colorectal cancer as radiosensitizer. Each derived durable clinical benefit from Promitil administered immediately prior to and following irradiation. Transient toxicity to normal tissues of moderate to severe degree was observed. Promitil appears to have potential clinical value in this setting. HIGHLIGHTS - Delivery of radio-sensitizing drugs with pegylated (long-circulating) liposomes is a pharmacologically rational approach which remains largely clinically untested.- A mitomycin-c prodrug delivered by pegylated liposomes (Promitil) is activated by thiol groups, which are produced in excess by radiation-damaged cells, thus potentiating the radio-sensitizing effect of Promitil.- Two durable clinical responses in patient with colorectal oligometastases to Promitil and radiotherapy suggest that this approach may be of value in cancer chemo-radiotherapy.
Serum free IgE guided dose reduction of omalizumab: a case report
Authors: Yasuhiro Gon, Reiko Ito, Shuichiro Maruoka, Kenji Mizumura, Yutaka Kozu, Hisato Hiranuma, Yuko Iida, Sotaro Shikano, Shu Hashimoto
Journal: Allergy Asthma Clin Immunol (2017)
Keywords: bronchial asthma, ige, omalizumab
MeSH terms: Case Reports

Background:
Omalizumab is a human IgG1 antibody against IgE used as a therapy for sever asthmatic patients with asthma. According to the guidelines of the Global Initiative for Asthma, omalizumab is an add-on drug at treatment step 5 that is used for severe asthma patients who are allergic to perennial allergens. The effects of omalizumab for severe asthma therapy have been validated in multiple clinical studies. However, the long-term effects of omalizumab on IgE production and possibility of resetting of administration dose of omalizumab remain unknown.
Case presentation:
The serum total and free IgE levels were measured over time in a 63-year-old female patient with allergic asthma who was administered 375 mg omalizumab biweekly for 36 months. Her symptoms did not worsen and clinical course remained favorable after reducing the dose to 375 mg per month. The serum free IgE levels temporarily increased following a dose reduction of omalizumab. The serum free IgE trough level temporarily increased at 4 weeks after capable to reduce the dosage; however, thereafter, the serum free IgE level decreased to desired levels (below 30 ng/mL).
Conclusions:
The present case shows the possibility of reducing the dose following the long-term use of omalizumab. Considering the high medical cost of omalizumab, the dose reduction may be a viable option. It may be useful to measure the serum free IgE level to appropriately identify patients in whom the dose can be reduced, and to carefully monitor the clinical course.
Morphology of partial-thickness macular defects: presumed roles of Müller cells and tissue layer interfaces of low mechanical stability
Authors: Andreas Bringmann, Jan Darius Unterlauft, Renate Wiedemann, Matus Rehak, Peter Wiedemann
Journal: Int J Retina Vitreous (2020)
Keywords: epiretinal membrane, fovea, lamellar hole, macular defect, müller glia, vitreofoveal traction

Background:
The pathogenesis of partial-thickness macular defects and the role of Müller glial cells in the development of such defects are not well understood. We document the morphological characteristics of various types of partial-thickness macular defects using spectral-domain optical coherence tomography, with the focus on tractional and degenerative lamellar holes, and discuss possible pathogenic mechanisms.
Methods:
A retrospective case series of 61 eyes of 61 patients with different types of partial-thickness macular defects is described.
Results:
Partial-thickness macular defects are caused by anteroposterior or tangential traction onto the fovea exerted by the partially detached posterior hyaloid and epiretinal membranes, respectively. Tractional elevation of the inner Müller cell layer of the foveola-without (outer lamellar holes, foveal pseudocysts) or with a disruption of this layer (tractional lamellar holes, macular pseudoholes)-produces an elevation of the inner layers of the foveal walls (nerve fiber layer to outer plexiform layer [OPL]) and a schisis between the OPL and Henle fiber layer (HFL). With the exception of outer lamellar holes, the (outer part of the) central outer nuclear layer and the external limiting membrane remain nondisrupted in the various types of partial-thickness defects. Degenerative lamellar holes are characterized by cavitations between the inner plexiform layer and HFL of the foveal walls; many cases have lamellar hole-associated epiretinal proliferation (LHEP). Proliferating cells of the disrupted Müller cell cone may contribute to the development of LHEP and fill the spaces left by degenerated photoreceptors in the foveal center.
Conclusions:
It is suggested that morphological characteristics of partial-thickness macular defects can be explained by the disruption of the (stalk of the) Müller cell cone in the foveola and the location of tissue layer interfaces with low mechanical stability: the boundary with no cellular connections between both Müller cell populations in the foveola, and the interface between the OPL and HFL in the foveal walls and parafovea. We propose that the development of the cavitations in degenerative lamellar holes is initiated by traction which produces a schisis between the OPL and HFL, and enlarged by a slow and chronic degeneration of Henle fibers and bipolar cells.Trial registration retrospectively registered, #143/20-ek, 04/03/2020.
Penile Glans Amputation following Circumcision: A Case Report of a Rare Complication
Authors: Salman Soltani, Mahdi Mottaghi, Amir Jafarpisheh, Mahmoud Tavakkoli
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Circumcision is the most prevalent surgery among men. Like any other surgical intervention, it is associated with several complications. A rare shocking complication is glans amputation which is a urologic emergency. Herein, we present a 4-year-old boy with penile glans amputation following circumcision. The reimplantation was performed in less than two hours. We approximated the ends over a size 4 : 0 catheter. The urethral anastomosis was performed via 6 : 0 Vicryl sutures. Then, we sutured amputated glans in place via Vicryl 4 : 0. We immobilized the penis for a week via bandages used in penile reconstruction surgeries. We also used pentoxifylline to treat glans ischemia after surgery. The patient and his parents did not mention any difficulties or abnormalities while voiding, and the cosmetic result was favorable after three months of follow-up.