Evaluation of Dermatological and Neurological Aspects of the Relationship between Rosacea and Headaches.

This study aimed to investigate the relationship between rosacea and headaches, focusing on different subtypes, as well as the associated clinical features and triggering factors. In this prospective study, 300 patients diagnosed with rosacea and 320 control subjects without rosacea or any connected mast cell activation illness were included. Patients with rosacea were assessed by a dermatologist according to the 2019 updated rosacea classification (ROSCO panel). Accordingly, patients were classified based on their predominant rosacea subtype as follows: erythematotelangiectatic (ETR), papulopustular (PPR), or phymatous (RhR). Patients experiencing headaches were assessed using the International Headache Classification. Headaches were categorized as migraine, tension-type headaches (TTHs), secondary types (STHs), and cluster-type headaches (CTHs). The ratio of headache was 30.3% in the rosacea group, which did not show a significant difference compared to the control group (30.3% vs. 25.0%, p = 0.138). In 81.3% of rosacea patients with headaches, headache onset occurred after the diagnosis of rosacea. The rate of patients with headaches was higher in the ETR group compared to the PPR and RhR groups (35.2% vs. 16.2% vs. 23.1%, p = 0.007, respectively). In terms of headache subtypes, the rates of patients with migraine and STHs were higher in the ETR group compared to the PPR and RhR groups, while the rate of patients with TTHs was higher in the RhR group. A positive correlation was found between rosacea severity and migraine severity (r = 0.284, p < 0.05). Among the triggering factors for rosacea, only sunlight was found to be associated with headaches. Lower age, female gender, and moderate to severe rosacea severity were identified as independent factors increasing the likelihood of headaches. A significant portion of rosacea patients experience headaches. Particularly, different subtypes of rosacea may be associated with various types of headaches. This study, highlighting the connection between migraine and ETR, is a pioneering work that demonstrates common pathogenic mechanisms and potential triggers.

An unusual course of SARS-CoV-2 infection: Challenging diagnosis of Guillain-Barré Syndrome.

COVID-19, caused by severe acute respiratory syndrome coronavirus-2, typically presents with respiratory symptoms and fever, but still a variety of clinical presentations have been reported. In this study, it was aimed to report a case of COVID-19 with an atypical presentation and an atypical course. As well, the recovery phase was complicated with GBS and consequently cytomegalovirus infection. It should be kept in mind that patients with COVID-19 severe disease need to be followed for neurological and other complications which may arise during the course of critical illness.

Episodic Oculomotor Nerve Palsy with Intracranial Hypertension and Carcinomatous Meningitis.

The classically affected cranial nerve from intracranial hypertension is the sixth nerve. Carcinomatous meningitis can cause persistent or progressive cranial nerve palsies by infiltrating them in the subarachnoid space. Here we present a rare case of episodic, short-lasting, and unilateral oculomotor nerve palsy associated with carcinomatous meningitis and intracranial hypertension in a 44-year-old woman diagnosed with metastatic lung adenocarcinoma. As the survival rates enhance for metastatic cancers, neurologists should expect more perplexing neurologic presentations and consider leptomeningeal metastasis and intracranial hypertension in patients who have cancer and present with short episodes of diplopia and unilateral third nerve palsy.

GNE missense mutation in recessive familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a motor neuron disease eventually leading to death from respiratory failure. Recessive inheritance is very rare. Here, we describe the clinical findings in a consanguineous family with five men afflicted with recessive ALS and the identification of the homozygous mutation responsible for the disorder. The onset of the disease ranged from 12 to 35 years of age, with variable disease progressions. We performed clinical investigations including metabolic and paraneoplastic screening, cranial and cervical imaging, and electrophysiology. We mapped the disease gene to 9p21.1-p12 with a LOD score of 5.2 via linkage mapping using genotype data for single-nucleotide polymorphism markers and performed exome sequence analysis to identify the disease-causing gene variant. We also Sanger sequenced all coding sequences of SIGMAR1, a gene reported as responsible for juvenile ALS in a family. We did not find any mutation in SIGMAR1. Instead, we identified a novel homozygous missense mutation p.(His705Arg) in GNE which was predicted as damaging by online tools. GNE has been associated with inclusion body myopathy and is expressed in many tissues. We propose that the GNE mutation underlies the pathology in the family.

Association of the G894T polymorphism of the endothelial nitric oxide synthase gene with diabetic foot syndrome foot ulcer, diabetic complications, and comorbid vascular diseases: a Turkish case-control study.

CONTEXT: There are controversial results and insufficient knowledge in the literature about the genetics of diabetes mellitus complications in the Turkish population and endothelial nitric oxide synthase (eNOS) gene polymorphisms may act as a potential modifier of diabetic vascular complications. OBJECTIVE: The objective of this study was to determine the association between eNOS G894T polymorphisms and diabetes-related diseases. DESIGN: A Turkish case-control study was designed. SETTING: The study was carried out in the Ankara University Hospital. PATIENTS OR OTHER PARTICIPANTS: Totally, 97 Turkish patients with diabetic foot ulcers and 102 controls were enrolled. Patients who had not received antimicrobial treatment in the preceding 6 months were included. Diabetic patients with hand and/or foot ulcers resulting from major trauma, such as road traffic accidents, were excluded. MAIN OUTCOME MEASURE: The effect of eNOS gene polymorphisms on diabetic complications and comorbid diseases was measured. RESULTS: Regarding eNOS G894T gene polymorphisms, 47.4% of the patients had GG (n = 46), 47.4% (n = 46) had GT, and 5.2% (n = 5) had TT alleles in the diabetes mellitus group, and 47.0% (n = 48), 41.2% (n = 42), and 11.8% (n = 12) had GG, GT, and TT alleles in the control group, respectively. There was no significant difference between the groups regarding the eNOS G894T gene allele ratios. Between groups with and without diabetic complications, a significant difference has only been found in the distribution of alleles in patients with comorbid atherosclerotic heart disease, whose GT-TT alleles were significantly higher than the GG alleles (p = 0.004). CONCLUSION: G894T polymorphism of eNOS gene was not associated with foot ulcer and diabetic complications, except in the presence of atherosclerotic heart disease.

POEMS syndrome: a case report.

A 43-year-old female patient admitted with a 2.5-year history of lower extremity symmetrical sensorimotor polyneuropathy, hypertrichosis, sweating, diarrhea, weight loss, and hyperpigmentation. The clinical evaluation met the criteria for the diagnosis of POEMS syndrome. The patient was initially treated with prednisolone and responded well. We planned high-dose chemotherapy with autologous stem cell rescue and introduced a more immunosuppressive regimen containing cyclophosphamide and dexamethasone. We present a case differing from the other cases with her 2 g/day proteinuria and hypertrophic osteoarthropathy.

Spinal intradural-intramedullary cavernous malformation. Case report and literature review.

Cavernous angiomas or cavernomas are uncommon vascular malformations of the central nervous system and spinal involvement is much rarer especially in pediatric patients. We report a case of spinal intradural-intramedullary cavernous angioma in a 14-year-old male child. The cavernoma was located at the level of C6-C7 at the dorsal part of the spinal cord. The diagnosis was made with MRI and the patient underwent surgical treatment. The cavernoma was totally removed with laminotomy and microsurgical techniques. Somatosensory evoked potential monitoring was also used peroperatively. The clinical, radiological and surgical features of this rare case were presented and discussed with reference to the literature.