Long-term Follow-up Of Cases Research Articles

Experience in managing patients with X-linked congenital retinoschisis

AIM: To describe the clinical manifestations and management experience of patients with X-linked congenital retinoschisis (XLRS).
 MATERIAL AND METHODS: The study was conducted in the ophthalmology department of the multidisciplinary clinical medical center Bonum (Yekaterinburg). Two brothers with XLRS were under observation. They underwent complete ophthalmological examinations, including electrophysiological examinations, optical coherence tomography (OCT), and fundus photoregistration. The mother refused genetic testing.
 RESULTS: Both siblings had early (up to 1 year) manifestations of central foveolamellar and peripheral bullous retinoschisis. The parents are phenotypically healthy, and the relatives have no hereditary eye diseases. The younger brother had a progressive peripheral retinoschisis and underwent barrier laser retinopexy; as a result, the progression stopped at the last examination. Acetazolamide 125 mg given orally daily for 4 weeks did not have a noticeable effect on the volume of bullous cavities. The older brother had been under observation for 4 years, and spontaneous closure of retinal cavities on the periphery in one eye and retinal detachment in the other after surgical treatment of retinoschisis were observed.
 CONCLUSION: Clinical cases of long-term follow-up of two brothers with XLRS are described. OCT is indicated to diagnose, assess the length and the state of the vitreoretinal interface, and monitor XLRS. Electroretignography is a specific and sensitive method for the complex diagnosis of XLRS. Barrier laser retinopexy is indicated for progressive peripheral retinoschisis. The efficacy and safety of carbonic anhydrase inhibitors in patients with XLRS require further study.

Long-term efficacy of ocrelizumab in the treatment of patients with multiple sclerosis – case reports

Treatment of patients with multiple sclerosis, despite the availability of many therapies, remains a challenge. The introduction of ocrelizumab, a highly effective therapy, has significantly improved the control of disease activity. The article discusses four different cases of patients treated with ocrelizumab, including one patient with newly diagnosed relapsing-remitting multiple sclerosis, one case of treatment modification after ineffective first-line therapy, and two cases of long-term follow-up of patients with primary progressive multiple sclerosis. The review of case studies is complemented by magnetic resonance images and the results of tests evaluating treatment effectiveness. In all clinical situations discussed, ocrelizumab proved to be the optimal choice. In addition to inhibiting the clinical and radiological progression of the disease in the long term, it was very well tolerated by patients.

Idiopathic pulmonary fibrosis: a clinical case of long-term follow-up

Idiopathic pulmonary fibrosis is a specific form of chronic progressive fibrotic interstitial pneumonia of unknown etiology. Over the past decade, significant progress has been made in developing and utilizing a diagnostic algorithm for patients with idiopathic pulmonary fibrosis, involving analysis of clinical, laboratory, and instrumental data, primarily the results of high-resolution chest computed tomography. Early antifibrotic therapy can alter the disease course, slow its progression, and improve the prognosis.

Recurrence of bilateral polysegmental pneumonia associated with COVID-19 (clinical case)

COVID-19 (clinical case)We describe a clinical case of long-term follow-up of a patient who had experienced bilateral polysegmental pneumonia associated with COVID-19 twice within 16 months.Patient, 52 years old, resident of the countryside. He fell ill acutely on 01/06/2020. He turned to the rural outpatient clinic with a paramedic complaining of an increase in body temperature up to 39.0 °С, shortness of breath with little physical exertion, cough with massive sputum production. He began treatment at the regional hospital, later continued at the Ternopil Regional Phthisiopulmonology Medical Center. A clinical diagnosis was made — community-acquired bilateral polysegmental pneumonia, severe course, group III. COPD, group B (GOLD 2) infectious exacerbation. P I II, intoxication syndrome. After inpatient treatment, a partial improvement was clinically determined, and radiographically, the resorption of inhomogeneous infiltration, but an increase in matte consolidation fields. It was during this period that a lockdown was introduced in the country in connection with the COVID-19 pandemic. Considering certain clinical and, in particular, radiological features of the course of the disease in a patient, COVID-19 can be suspected, at that time a PCR test was not yet performed. Until August 2020, the patient received outpatient treatment and was observed by a family doctor at the place of residence. In August 2020, the patient underwent a follow-up examination. Clinical and radiological improvement was noted. But the condition deteriorated sharply in the second half of November 2020. From 11/27/2020 to 12/14/2020, he was treated at the regional CRH for COVID-19, PCR+, severe course of community-acquired bilateral pneumonia. On the control CT scan (December 30, 2020) — in dynamics from August 13, 2020, progression — an increase in the area of ​​the lesion. Treatment continued at the Ternopil Regional Phthisiopulmonological Medical Center, and after discharge on an outpatient basis. At the control examination (06/16/2021), in the dynamics from 12/30/2020, the resorption of fibrous seals, a decrease in the intensity of consolidation areas. Conclusion: CT picture of chronic fibrosing lung disease, resorption phase.The patient was diagnosed with bacterial-viral pneumonia, which clinically and radiologically resembled pneumonia associated with COVID-19. Clinical and radiographic findings showed improvement after 7 months of treatment. After 10 months from the date of the first detection of the disease, the patient was re-diagnosed with pneumonia associated with COVID-19. Long-term inpatient and outpatient treatment was carried out, as a result of which it was possible to achieve clinical and radiological stabilization of the process and resorption of changes in the lungs.

Role of MRI in the prognosis of hypoxic–ischemic encephalopathy

BackgroundNeonatal encephalopathy is a heterogeneous syndrome characterized by signs of central nervous system dysfunction in newborn infants. The main cause of neonatal encephalopathy can be broadly divided into perinatal asphyxia [hypoxic–ischemic encephalopathy (HIE)], perinatal stroke, metabolic encephalopathy from inborn errors of metabolism, congenital neonatal central nervous system infections, and severe birth trauma.ObjectivesTo highlight the predictive value of MRI as a safe and superior neuroimaging technique in cases of HIE.Patients and methodsThis progressive study was conducted on 30 neonates with HIE referred to the Radiology Department at Menoufia University Hospitals for advanced magnetic resonance techniques assessment during the period from July 2019 to December 2020. The study received the approval of Ethics Committee of Faculty of Medicine, Menoufia University. A written informed consent was taken from the parents or caregivers and written informed consent was obtained from them.ResultsApparent diffusion coefficient (ADC) value was significantly increased with hypertonia (1.75 ± 1.21), hypotonia (1.52 ± 1.51), and MRI than flaccid (0.86 ± 0.67). There was no statistically significant relation between ADC value with time of birth, causes of admission, Apgar score, time of birth at 5 min, Tendon reflex, seizures, periventricular leukomalacia, and intraventricular hemorrhage.ConclusionMRI findings were significantly related with diffusion-weighted (DW) and ADC value. MRI findings indicated that periventricular leukomalacia and basal ganglia ischemia were significantly related with DW. Moreover, it was noted that MRI is a very efficient tool in evaluating morphometric HIE. It's noninvasiveness and no exposure to ionizing radiation is an added advantage. However, experience and understanding of the principles are essential for accurate diagnosis. Also, DW and ADC values may add value to routine MRI examination. However, there is limitation in our study as regards the small number of cases, lack of clinical data, and long-term follow-up of cases.

A Case of Long-term Follow-up after Maxillary Distraction Osteogenesis and Mandibular SSRO for a UCLP Patient

A Case of Long-term Follow-up after Maxillary Distraction Osteogenesis and Mandibular SSRO for a UCLP Patient

A case of long-term follow-up of a Japanese patient with Fabry disease without recurrent cerebral infarction treated with enzyme replacement therapy

A case of long-term follow-up of a Japanese patient with Fabry disease without recurrent cerebral infarction treated with enzyme replacement therapy

Case Report: Unusual Presentation of Myositis Ossificans of the Elbow in a Child Who Underwent Excessive Postoperative Rehabilitation Exercise

Traumatic myositis ossificans (MO) is an unusual complication after muscle injury and is predominantly seen in young adults and adolescents. Pediatric MO cases are even rarer. We report an 8-year-old girl who was diagnosed with a lateral humeral condyle fracture. She was treated surgically, and her elbow joint was fixed with plaster. Rehabilitation exercise was administered 1 month after the operation. Due to the wrong exercise method, a palpable bony mass appeared around the elbow 1 month later. The clinical radiological diagnosis showed MO, and conservative treatment was administered. After 3 years of follow-up, the affected limb functioned well, with no sign of recurrence. Here, we report this long-term follow-up case of MO resulting from excessive rehabilitation exercise.

Holistic Management F Holistic Management For Severe Oral Lichen Planus: A Case al Lichen Planus: A Case Report

Oral lichen planus (OLP) is an immunologically mediated mucocutaneous disease associated with various factors including systemic diseases, with a higher prevalence in females than males. The majority of OLP cases are accompanied by symptoms of discomfort and/or pain. Treatment of OLP can be challenging due to its unknown aetiology and involvement of multiple contributing factors. Objective: Our aim is to report a long-term follow-up case of oral lichen planus with holistic management approach. This report will provide some options to clinicians who are having difficulties in managing OLP cases especially with the medications. Case Report: This case report discusses a female patient who suffered OLP with no definitive treatment prior to referral to us. A thorough history of her problem including psychosocial factors and dietary pattern were obtained. Clinically, the oral mucosa presented characteristics similar to erosive oral lichen planus. Patient reluctance towards pharmacotherapy due to her comorbidities was a challenged in managing her OLP. Hence, a non-pharmacotherapeutic solution was offered by considering psychology and dietary pattern. Conclusion: A severe oral lichen planus with ulcerative background could be managed holistically and not just through a pharmacotherapeutic approach.

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Objective:Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 (TRPM6) gene and is characterized by selective magnesium malabsorption. Affected cases are usually diagnosed during infancy and usually present with seizures due to hypocalcemia and hypomagnesemia. Irreversible neurological deficits and arrhythmias can be observed without appropriate treatment. The aim was to evaluate the long-term follow-up of patients with genetically confirmed HSH.Methods:A total of six patients with HSH, two of whom were siblings, were included. Age at diagnosis, clinical, laboratory and follow-up data on admission were recorded. All 39 exons of the TRPM6 gene and flanking exon-intron junctions from genomic DNA were amplified and sequenced in all cases.Results:The median (range) follow-up duration was 12.1 (7.6-21.7) years. All cases were diagnosed in infancy. Four different mutations, three of which had not been previously reported, were detected in the TRPM6 gene. Treatment compliance was good and there were no severe complications in the long-term follow-up of cases. However, mental retardation, specific learning difficulty and attention deficit/hyperactive disorder were observed as comorbidities.Conclusion:Of the four different TRPM6 mutations in this small cohort, three had not been previously reported. The long-term prognosis of HSH appears to be good, given early diagnosis and good treatment compliance. This long-term follow-up and prognostic data and the three novel mutations will contribute to the published evidence concerning this rare condition, HSH, and it is hoped will prevent negative outcomes.

СОВРЕМЕННОЕ ЛЕЧЕНИЕ НЕМЕЛКОКЛЕТОЧНОГО РАКА ЛЁГКОГО С ВНУТРИМОЗГОВЫМИ МЕТАСТАЗАМИ И МЕТАСТАТИЧЕСКИМ ПОРАЖЕНИЕМ ПЕЧЕНИ, ЛИМФАТИЧЕСКИХ УЗЛОВ СРЕДОСТЕНИЯ, КОСТЕЙ СКЕЛЕТА. КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ

Introduction: The article covers issues related to modern methods of treatment of non-small cell lung cancer (NSCLC) with multiple synchronous metastases in brain, liver, mediastinal lymph nodes, skeletal bones and describes a clinical case of modern effective treatment and long-term follow-up of a patient with advanced NSCLC and extra- and intracranial metastatic spread.
 Purpose: Evaluation of modern methods of special antitumor treatment and their application in clinical practice for the treatment of metastatic NSCLC.
 Material and methods: Modern methods of proton and photon radiation therapy, targeted therapy are considered.
 Results: The use of modern methods of special antitumor therapy has increased the overall and relapse-free survival rate of patients with multiple metastases of NSCLC in brain, liver, mediastinal lymph nodes, skeletal bones reducing the need for additional interventions. This is confirmed by a long-term follow-up after modern effective antitumor treatment of a patient with advanced NSCLC and synchronous progression in the form of extra- and intracranial metastatic spread. The patient has been alive for more than 2 years from the moment of progression with an estimated life expectancy of 4–5 months.
 Conclusion: Modern methods of special antitumor therapy can increase the survival rate of patients with multiple synchronous NSCLC metastases in brain, liver, mediastinal lymph nodes, skeletal bones without significant deterioration in their quality of life.

New Surgical Approach for Labial Stabilization: A Long-Term Follow-up Case Series.

Lip repositioning surgery is a predictable surgical technique that provides a solution for patients with excessive gingival smile. This case series presents four patients with 6 to 8 mm of excessive gingival display who received a modified surgical technique using internal horizontal mattress sutures to immobilize the labial superior elevator muscle. None of the patients exhibited complications, and their healing was uneventful. All patients demonstrated predictable results and presented with stability over an average of 3.5 years of follow-up. The modified lip repositioning surgery with internal horizontal mattress sutures seems to provide reliable long-term results in patients with an excessive gingival display.

Dramatic Responses of Recurrent Upper Urinary Tract Urothelial Carcinoma Harboring FGFR3 and TP53 Activating Mutations to Pembrolizumab in Combination with Erdafitinib: A Case Report

BackgroundUpper tract urothelial carcinoma (UTUC) has a high recurrence rate and is likely refractory to systemic chemotherapy. The long-term outcomes and responses to immunotherapy and retreatment regimen after tumor recurrence for such cases had not yet been well-documented.Case PresentationHere we report a unique case of long-term follow-up with a 67-year-old woman, who was diagnosed with advanced UTUC, received radical nephroureterectomy with bladder cuff, and was refractory to chemotherapy with cisplatin and gemcitabine. Positive PD-L1 expression and somatic mutation of Ser249Cys in FGFR3 were identified in the tumor tissue. The patient then received pembrolizumab monotherapy and achieved complete response (CR) after 6 cycles of treatment. She discontinued pembrolizumab treatment thereafter but remained in CR for 3 years and 7 months until the recurrence of tumor in the right mid-ureter. The patient was then retreated with a combination of pembrolizumab and erdafitinib, and achieved CR again after the third cycle of treatment.ConclusionWe reported here a rare case of UTUC with concurrent pathogenic mutations in FGFR3 and TP53 with positive PD-L1 expression. The patient archived exceptional therapeutic responses to PD-1 blockade treatment and retreatment with combination of pembrolizumab and erdafitinib. Our results provide new insight into the duration of immunotherapy and the retreatment strategy after tumor recurrence based on individual genomic profiles.

Implant-supported fixed and removable prostheses in the fibular mandible

BackgroundTo restore the health-related quality of life (HRQoL) of patients who underwent jaw resection and reconstruction surgery, dental rehabilitation is an essential procedure and also one of the most challenging for oral and maxillofacial surgeons. Even though recent studies have reported the possibility and reliability of dental implant rehabilitation with the fibula free flap (FFF), clinical reports of long-term follow-up cases are scarce. We herein reported seven cases of FFF reconstruction and implant rehabilitation. We also discussed implant planning strategy and surgical techniques.MethodsFrom 2012 to 2019, seven patients were treated with FFF reconstructive jaw surgery combined with dental implant installation and fabrication of implant-supported prostheses at Seoul National University Dental Hospital, Seoul, Korea. Patient characteristics and FFF treatment results were collected. Records of dental implants were analyzed clinically and radiologically.ResultsAmong the seven patients in this report, there were three males and four females, with an average age of 54.4 years. A total of 39 implants were placed in the fibular bone. The mean follow-up period after implant installation was 24 months. Five implants failed and were removed 3 months after installation. The implant success rate was 87.2%. Marginal bone loss at 12 months after loading was 0.23 ± 0.18 mm on the mesial side and 0.25 ± 0.26 mm on the distal side.ConclusionWith the challenges present in FFF-reconstructed patients, an implant-supported prosthesis is a reliable option for stable and functional oral rehabilitation. The implant-supported prosthesis on the FFF has great results regarding restoration of function (mastication, swallowing, and speaking), appearance, and overall HRQoL. Collaboration between surgeons and prosthodontists is essential for a satisfying outcome.

Endodontic retreatment due to secondary periapical injury: case report

Endodontic retreatment due to secondary periapical injury: case report

Verrucous carcinoma of the esophagus: a case report and literature review

BackgroundVerrucous carcinoma is an extremely rare form of cancer in the esophagus.Case presentationA 56-year-old woman presented with dysphagia in 2007. Endoscopic examination revealed an irregular protruding circumferential erosion in the lower thoracic esophagus, but because pathological examination of the biopsy specimen showed no evidence of malignancy, the status of the erosion was followed up by an upper gastrointestinal endoscopic examination every 3 months. A year later, polypoid lesions and fungal infection were observed in the eroded area, but no evidence of malignancy was detected in the biopsy specimen at the time. Eighteen months later, the polypoid lesions had increased in size, and the biopsy specimen was diagnosed as highly suspicious of well-differentiated squamous cell carcinoma. Because the patient’s condition deteriorated due to worsening of the dysphagia and weight loss, we performed a thoracoscopic esophagectomy with lymph node dissection and reconstructed the alimentary tract with a gastric tube via the posterior mediastinal route. Macroscopic examination of the resected specimen showed a white protruding lesion with an irregular surface, and histopathological examination led to a diagnosis of esophageal verrucous carcinoma without lymph node metastasis. No signs of recurrence have been observed in the 8 years since surgery.ConclusionWe have reported a long-term follow-up case of verrucous carcinoma of the esophagus that was difficult to diagnose before surgery.

Risk Factors for Implant's Antagonism in Long-term Follow-up Cases

Risk Factors for Implant's Antagonism in Long-term Follow-up Cases

A long-term follow-up case of skeletal Class II malocclusion treated by orthognathic surgery

A long-term follow-up case of skeletal Class II malocclusion treated by orthognathic surgery

Endovascular Relining Therapy of Peri Graft Seroma After Open Repair of Abdominal Aortic Aneurysm with Polytetrafluoroethylene Graft; Report of a long-term follow-up Case

Peri-Graft Seroma (PGS) is a sterile, serous fluid collection confined around a prosthetic vascular graft in the original aneurysm sac...

Clinical case of using epleronon and candesartan for correction of heart failure in patients with Ebshtein’s anomaly

Aim. To evaluate the efficacy of eplerenone and candesartan in heart failure correction in a patient with Ebstein's anomaly detected in adulthood.
 Methods. A clinical case of long-term follow-up of a patient with a rare pathology, Ebstein's anomaly detected in adulthood, is described. The data of subjective examination are given. The anomaly was identified during a screening heart ultrasound exam, the patient had no complaints before, and had no history of chronic diseases, including congenital heart defects among family members. Also, the patient underwent routine diagnostic methods general clinical studies, cardiac echocardiography, magnetic resonance imaging of the heart, N-terminal pro-brain natriuretic peptide measurement. In addition, the effect of correcting the signs of heart failure with a combination of candesartan and eplerenone in the complex treatment of heart failure according to echocardiography data and the level of N-terminal pro-brain natriuretic peptide is shown.
 Results. A decrease in the level of N-terminal pro-brain natriuretic peptide, an increase of the ejection fraction according to echocardiography with the use of eplerenone and candesartan in the complex treatment of heart failure in these patients were demonstrated.
 Conclusion. Despite the limited data on the use of antagonists of mineralcorticoid receptors and angiotensin receptor blockers among the patients with Ebstein's anomaly, the clinical case presented in the article demonstrates high effectiveness of this combination in treating heart failure in such patients.