clinical improvement
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Anna Winczewska-Wiktor ◽  
Adam Sebastian Hirschfeld ◽  
Magdalena Badura-Stronka ◽  
Irena Wojsyk-Banaszak ◽  
Paulina Sobkowiak ◽  

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced. After starting the treatment, a significant improvement was observed in reducing the apnea episodes and slight psychomotor progress. In the course of further diagnostics, CMS was excluded, and CLIFAHDD syndrome was confirmed. Thus, we try to explain a possible mechanism of clinical improvement after the introduction of treatment with pyridostigmine in a patient with a mutation in the NALCN gene.

2022 ◽  
Vol 9 (1) ◽  
pp. 231-238
Putu Eka Ratna Setia Rahayu ◽  
Gusti Ayu Vina Mery Giovani

Background/Aim: Morbus Hansen (MH) is a chronic infectious disease caused by Mycobacterium leprae. The disease has an average incubation period of 3-5 years. Morbus Hansen (MH) has various clinical, microbiological and histopathological features. In the following, a new case of MH is reported with a clinical manifestation of Borderline Tuberculoid (BT) type MH. The patient was treated with the MDT MB regimen for 3 months and had clinical improvement. Case Report: A 23-year-old boy with complaints of sudden feeling of heat, tingling and cramping from the tip of his right foot to the sole of his right foot. He also complaining about black lesions on both hands, right elbow, face, chest and back. The diagnosis of gout, fungus and dermatitis can be ruled out after microscopic examination of AFB on the right, left ear lobe, and foot lesions showed negative results and histopathological examination results showed Morbus Hansen type BT. The risk factor for contracting Morbus Hansen is the patient has lived in a dormitory for 2.5 years and it is known that there are people who suffer from a similar disease in that environment. The patient was treated using a multibacillary regimen for 3 months and the lesions improved and the numbness decreased. Treatment plan during the case for 12-18 months. This case is unique due to the clinical manifestation has not significant characteristic for MH, AFB is not found from ear lobe smear. MH established after skin biopsy done. Conclusion: It was reported that one MH case with TB for 3 months had clinical improvement, with plans to continue treatment for 12-18 months. Keywords: Borderline Tuberculoid; Morbus Hansen, Multibacillary.

2022 ◽  
pp. 152660282110677
Marcus Thieme ◽  
Jarwed Arjumand ◽  
Markus Spanagel ◽  
Gunnar Tepe ◽  
Erwin Blessing ◽  

Purpose: This postmarketing surveillance study aimed to assess effectiveness and safety of a peripheral self-expanding stent with high torsional strength (POLARIS stent) for the treatment of de novo superficial femoral artery (SFA) lesions in the routine clinical practice. Materials and Methods: Consecutive patients with symptomatic de novo SFA occlusive disease who underwent POLARIS stent implantation were enrolled into the prospective, multicenter, observational postmarket surveillance study. Primary outcome measure was freedom from clinically driven target lesion revascularization (cdTLR) at 12 months. Main secondary outcomes were procedural success, primary clinical improvement, and freedom from major adverse cardiovascular and limb events (MACLE) throughout 24 months. Results: A total of 199 participants (70±11 years, 70.4% men) were included in the study at 9 German sites from December 2014 to August 2018. Half of them (52.6%) were current smokers, 37.6% had diabetes, and 25.0% were obese. Most participants suffered from intermittent claudication (88.4%). Mean lesion length was 98±83 mm, 43.5% of lesions were occluded, and 27.3% were severely calcified. Freedom from 12 months cdTLR was 94.4% (95% confidence interval [CI], 90.6–98.2). At 24 months, freedom from cdTLR was 88.7% (95% CI, 83.0–94.4). Procedural success was achieved in 96.2% of participants. Primary clinical improvement occurred in 87.5% and 85.4% of participants at 12 and 24 months, respectively. Freedom from MACLE was 94.8% (95% CI, 91.4–98.1) and 93.8% (95% CI, 89.9–97.6) at 12 and 24 months, respectively. Conclusions: Treatment of SFA occlusive disease in a real-world setting using the POLARIS stent with high bidirectional torsional strength is efficacious and does not raise any safety concern in the medium term. The study is registered with (Identifier: NCT02307292).

2022 ◽  
Vol 15 ◽  
pp. 2632010X2110707
Boubacar Efared ◽  
Kadre Ousmane Kadre Alio ◽  
Boubacar Idrissa ◽  
Aïchatou Balaraba Abani Bako ◽  
Habiba Salifou Boureima ◽  

Lacrimal gland chondroid syringoma is a very rare tumor with classic clinico-radiological symptoms that should be familiar to clinicians for appropriate patients’ management as the tumor has potential for recurrence and malignant transformation. We report herein a case of chondroid syringoma in a 35-year-old patient presenting with progressive painless proptosis for 2 years. He underwent complete surgical removal of the tumor, with subsequent clinical improvement of his symptoms.

2022 ◽  
Vol 21 (1) ◽  
pp. 191-195
Nurkhaniza Kaman ◽  
Azlina Ishak ◽  
Juliawati Muhammad

We present a case of disseminated cutaneous sporotrichosis in a 72-year-old male patient who has multiple ulcerated painless nodules over the left side of his chest and on his upper and lower left limbs for three years. He was initially diagnosed to have nodular vasculitis based on early repeated biopsies. Despite the patient’s good compliance with his prednisolone medication, no significant clinical improvement was observed. Another biopsy, which was arranged after two years of treatment for nodular vasculitis, supported the diagnosis of sporotrichosis. Itraconazole was initiated, and all the lesions showed a remarkable response toward the treatment. The delay in finding the correct diagnosis unnecessarily exposed the patient to the side effects of steroid and caused the disease to worsen. Bangladesh Journal of Medical Science Vol. 21(1) 2022 Page : 191-195

2022 ◽  
Vol 52 (1) ◽  
pp. E6

OBJECTIVE In this study, the authors aimed to describe a new technique of sacroiliac joint (SIJ) fusion using a robotic navigation guidance system and to document clinical results with patient-reported visual analog scale (VAS) scores. METHODS Patients diagnosed with SIJ dysfunction were surgically treated using 2 hydroxyapatite (HA)–coated, threaded screws with the aid of the robotic navigation system. In a total of 36 patients, 51 SIJs were fused during the study period. Patients’ VAS scores were used to determine clinical improvement in pain. Postoperative imaging at routine intervals during the follow-up period was also performed for assessment of radiological fusion. In addition, complication events were recorded, including reoperations. RESULTS All 36 patients had successful fusion evidenced by both CT and clinical assessment at the final follow-up. Two patients underwent reoperation because of screw loosening. The mean preoperative VAS score was 7.2 ± 1.1, and the mean 12-month postoperative VAS score was 1.6 ± 1.46. This difference was statistically significant (p < 0.05) and demonstrated a substantial clinical improvement in pain. CONCLUSIONS Robotic navigation–assisted SIJ fusion using 2 HA-coated, threaded screws placed across the joint was an acceptable technique that demonstrated reliable clinical results with a significant improvement in patient-reported VAS pain scores.

BMJ Open ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. e047390
Chengbin Yang ◽  
Yongjie Ma ◽  
An Tian ◽  
Jiaxing Yu ◽  
Sichang Chen ◽  

ObjectiveTo define the pattern of long-term clinical outcomes and prognostic factors in patients with spinal dural arteriovenous fistulas (SDAVFs).DesginProspective cohort study based on constantly recruiting patients with SDAVFs in two medical centres in China.SettingPatients with SDAVFs were recruited consecutively between March 2013 and December 2014 in two referral centres.ParticipantsA prospective cohort of 94 patients with SDAVFs was included in this study, and 86 patients (mean age 53.0 years, 71 men) completed the study. Patients who had previously undergone endovascular or neurosurgical treatment or had neurological dysfunction caused by other diseases or refused treatment were excluded.InterventionsAll patients underwent neurosurgery or endovascular embolisation. These patients were evaluated with the modified Aminoff and Logue’s Scale (mALS) 1 day before and 3, 6, 12 and 72 months after treatments.ResultsThe duration of symptoms ranged from 0.5 to 66 months (average 12.8 months). The location of SDAVFs was as follows: 33.7% above T7, 50.0% between/include T7 and T12% and 16.3% below T12. 75 patients (87.2%) underwent neurosurgical treatment, and 9 patients (10.5%) underwent endovascular treatment. 58 patients (67.4%) exhibited an improvement in mALS of one point or greater at 72 months. Patients with less disability were more likely to improve at 72 months (p<0.05). 48 patients (55.8%) showed deterioration at 72 months compared with 12 months. 61% of the patients suffered numbness, and 22% had pain before treatment. However, 81% of patients had numbness, and 28% had pain after treatment. This deterioration was related to 1-year mALS and age.ConclusionNearly two-thirds of the patients experienced clinical improvement at 72 months, and preoperative (1 day before treatment) mALS was the strongest predictor of clinical improvement. However, 55.8% of patients showed deterioration after temporary recovery. All patients with SDAVFs should accept treatment as soon as possible.

2021 ◽  
Vol 24 (10) ◽  
pp. 316-316 ◽  
Elena Favaretto ◽  
Giulia Gortani ◽  
Gabriele Simonini

The present retrospective observational study on thirty children with Sydenham chorea shows that steroid treatment seems to be more effective than symptomatic treatment in both clinical remission and clinical improvement of symptoms.

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