Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?

2020 ◽  
Vol 33 (12) ◽  
pp. 1617-1624
Author(s):  
Nur Berna Celik ◽  
Nazli Gonc ◽  
Alev Ozon ◽  
Ayfer Alikasifoglu ◽  
Frank Rauch ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Treatment Response ◽  
Treatment Options ◽  
Combined Treatment ◽  
Fracture Rate ◽  
Osteogenesis Imperfecta Type ◽  
Current Standard ◽  
Factors Affecting ◽  
First Case

AbstractObjectivesOsteogenesis imperfecta type VI (OI VI) follows a progressive and severe course, yet unlike other forms of severe OI it has a later onset of fractures, and extra-skeletal findings are not part of the clinical picture. Another difference is that there is an increase in unmineralized osteoid tissue in OI VI, which hinders the effect of bisphosphonates-the current standard of treatment for OI. Therefore, the response to standard treatments in OI VI is not satisfactory. Herein, we report long-term follow-up of two cases with novel SERPINF1 mutations, who show great variation in their treatment response to bisphosphonates.Case presentationThe first case was given pamidronate at the age of 15 months when he could sit independently, followed a fluctuating course under treatment, fracture rate did not decrease, however he was able to mobilize with walker at the age of 10 years. On the other hand, the second case developed severe deformities and became wheelchair-bound under pamidronate, thus the treatment was switched to denosumab. Unfortunately, there was no improvement under denosumab after 15 months too, and since bone pain increased, denosumab treatment was stopped. He was put on zoledronic acid instead.ConclusionSERPINF1 transcript amount may be an important factor to explain the variation in response to pamidronate therapy. In OI VI patients, the factors affecting the clinical course should be identified and new or combined treatment options should be established.

scholarly journals Prognostic Factors Affecting Long-Term Survival after Resection for Noncolorectal, Nonneuroendocrine, and Nonsarcoma Liver Metastases

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Fabio Uggeri ◽  
Enrico Pinotti ◽  
Marta Sandini ◽  
Luca Nespoli ◽  
Luca Gianotti ◽  
...  
Keyword(s):  
Overall Survival ◽  
Liver Metastases ◽  
Treatment Options ◽  
Postoperative Outcome ◽  
Term Outcome ◽  
Term Survival ◽  
Long Term Outcome ◽  
Factors Affecting ◽  
Pringle’S Maneuver

Aim. To evaluate feasibility and long-term outcome after hepatic resection for noncolorectal, nonneuroendocrine, and nonsarcoma (NCNNNS) liver metastases in a single center.Methods. We retrospectively reviewed our experience on patients who underwent surgery for NCNNNS liver metastases from 1995 to 2015. Patient baseline characteristics, tumor features, treatment options, and postoperative outcome were retrieved.Results. We included 47 patients. The overall 5-year survival (OS) rate after hepatectomy was 27.6%, with a median survival of 21 months. Overall survival was significantly longer for patients operated for nongastrointestinal liver metastases when compared with gastrointestinal (41 versus 10 months;p=0.027). OS was significantly worse in patients with synchronous metastases than in those with metachronous disease (10 versus 22 months;p=0.021). The occurrence of major postoperative complication negatively affected long-term prognosis (OS 23.5 versus 9.0 months;p=0.028). Preoperative tumor characteristics (number and size of the lesions), intraoperative features (extension of resection, need for transfusions, and Pringle’s maneuver), and R0 at pathology were not associated with differences in overall survival.Conclusion. Liver resection represents a possible curative option for patients with NCNNNS metastases. The origin of the primary tumor and the timing of metastases presentation may help clinicians to better select which patients could take advantages from surgical intervention.

Long-term follow-up in osteogenesis imperfecta type VI

2017 ◽  
Vol 28 (10) ◽  
pp. 2975-2983 ◽  
Author(s):  
P. Trejo ◽  
T. Palomo ◽  
K. Montpetit ◽  
F. Fassier ◽  
A. Sato ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Long Term Follow Up

scholarly journals A 60-Year-Old Female With Metastatic Malignant Melanoma of the Scalp Responding to Ipilimumab

2018 ◽  
Vol 4 ◽  
pp. 2513826X1775111
Author(s):  
Sarah Lohrenz ◽  
Jennifer Crawford ◽  
Shawki Souf
Keyword(s):  
Malignant Melanoma ◽  
Treatment Options ◽  
Poor Response ◽  
Metastatic Malignant Melanoma ◽  
Advanced Stage ◽  
Free Response ◽  
First Case ◽  
Promising Treatment ◽  
Novel Concept

Melanoma is an aggressive disease that accounts for approximately 75% of skin cancer-related deaths. In the past, treatment options for patients with advanced stage melanoma have been limited with poor response rate and failure to improve overall survival (OS). Immunotherapy is a promising treatment that has been shown to improve OS and in cases produce durable remissions—a novel concept in the treatment of advanced melanoma. We report a case of advanced stage metastatic malignant melanoma of the scalp with a durable (31 months) response to ipilimumab immunotherapy. This is the first case study reporting long-term, progression-free response to ipilimumab in metastatic melanoma without side effects of therapy. This case adds to the evidence supporting early referral and initiation of ipilimumab in patients who can tolerate it, with the goal of producing a sustained treatment-free response and preserved quality of life.

scholarly journals Current Strategies and Future Perspectives for Precision Medicine in Pancreatic Cancer

Cancers ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 1024 ◽  
Author(s):  
Ivonne Regel ◽  
Julia Mayerle ◽  
Mahajan Ujjwal Mukund
Keyword(s):  
Pancreatic Cancer ◽  
Precision Medicine ◽  
Treatment Response ◽  
Targeted Therapies ◽  
Treatment Options ◽  
Experimental Studies ◽  
Ductal Adenocarcinoma ◽  
Current Standard ◽  
Advanced Tumor ◽  
Tumor Stages

Current standard-of-care for patients with pancreatic ductal adenocarcinoma (PDAC) focusses on chemotherapeutic regimens and pancreatic cancer surgery. However, limited treatment options, late diagnosis in advanced tumor stages and the aggressive behavior of PDAC contribute to the high mortality of the disease. Consequently, there is an urgent need of precision medicine for pancreatic cancer patients. All over the world, numerous initiatives started in recent years to translate novel scientific discoveries into prospective clinical trials. One major approach pursues the stratification of PDAC patients according the tumor transcriptome to predict treatment response. Other strategies concentrate on genomic alterations and the identification of individualized targeted therapies. Further experimental studies are ongoing to detect novel biomarkers for cancer diagnosis, subtyping, treatment response prediction or clinical outcome. However, the challenge remains to transfer the knowledge into clinical practice. In this review, we summarize current literature and knowledge and highlight novel concepts of basic and clinical research uncovering suitable biomarkers and targeted therapies. Thus, we provide an overview of preclinical and clinical efforts of precision medicine in pancreatic cancer.

scholarly journals Systemic juvenile xanthogranuloma: a case of spontaneous regression of intramedullary spinal cord, cerebral, and cutaneous lesions

2017 ◽  
Vol 20 (6) ◽  
pp. 556-560
Author(s):  
Anne Morice ◽  
Sylvie Fraitag ◽  
Catherine Miquel ◽  
Christian Sainte Rose ◽  
Stéphanie Puget
Keyword(s):  
Spinal Cord ◽  
Treatment Options ◽  
Multidisciplinary Care ◽  
Benign Disease ◽  
Juvenile Xanthogranuloma ◽  
Cutaneous Lesions ◽  
Intramedullary Spinal Cord ◽  
First Case

Juvenile xanthogranuloma (JXG) is a rare disease that belongs to the non-Langerhans cell histiocytoses. It presents a wide clinical spectrum, usually occurs before 5 years of age, and is commonly confined to the skin; however, it can affect multiple sites, including the nervous system, and can lead to severe disorders. Although JXG is a benign disease that usually regresses spontaneously, several curative treatments have been proposed in cases of organ involvement. Treatment options include corticosteroids, chemotherapy, and radiotherapy; however, these can have severe, long-term adverse effects in children.The authors here describe the first case of spontaneous resolution of an intramedullary spinal cord lesion of JXG associated with cerebral and cutaneous lesions in a young boy with 9 years of follow-up. The initial neurological symptoms resolved without any surgical or medical treatment. This case shows that extracutaneous lesions of JXG, including those with intramedullary spinal cord involvement, can regress without curative treatment—like cutaneous lesions—although both multidisciplinary care and close follow-up should be implemented.

Osteogenesis Imperfecta type II with the variant c.4237G>A (p.Asp1413Asn) in COL1A1 in a dichorionic, diamniotic twin pregnancy

2016 ◽  
Vol 5 (1) ◽  
pp. 45-48
Author(s):  
Linda Novak ◽  
Daniela Steinberger ◽  
Anneke Wilhelm ◽  
Franz Bahlmann
Keyword(s):  
Osteogenesis Imperfecta ◽  
Twin Pregnancy ◽  
Ultrasound Examination ◽  
Treatment Options ◽  
3D Ultrasound ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii ◽  
Premature Rupture Of Membranes ◽  
Premature Rupture ◽  
Ambulant Patient

Abstract We present the case of a 34-year-old woman with a prenatally diagnosed osteogenesis imperfecta type II of one fetus of a diamniotic-dichorionic twin pregnancy at 28 weeks and 2 days of gestation. The diagnosis was suspected after a routine ultrasound examination, specified by 3D-ultrasound and confirmed with moleculargenetic analyses of COL1A1 with DNA of fetal cells obtained after amniotic drainage. Since a premature rupture of membranes occurred a cesarean section was performed at 36 weeks of gestation. Both newborns received primary medical care by neonatologists. The affected child received further treatment initially stationary, later as an ambulant patient. Even though ultrasound is a powerful tool to identify clinical features of osteogenesis imperfecta, the condition can finally only be confirmed by collagen or DNA analyses. We discuss the possibilities and limits of prenatal diagnosis, treatment options as well as issues that are relevant for genetic counseling.

A Case of Catatonia in a 14-Year-Old Girl with Schizophrenia Treated with Electroconvulsive Therapy

2013 ◽  
Vol 41 (1) ◽  
pp. 69-74 ◽  
Author(s):  
Frank Häßler ◽  
Olaf Reis ◽  
Steffen Weirich ◽  
Jacqueline Höppner ◽  
Birgit Pohl ◽  
...  
Keyword(s):  
Case Report ◽  
Treatment Response ◽  
Electroconvulsive Therapy ◽  
Rating Scale ◽  
Combined Treatment ◽  
Adolescent Patient

This article presents a case of a 14-year-old female twin with schizophrenia who developed severe catatonia following treatment with olanzapine. Under a combined treatment with amantadine, electroconvulsive therapy (ECT), and (currently) ziprasidone alone she improved markedly. Severity and course of catatonia including treatment response were evaluated with the Bush-Francis Catatonia Rating Scale (BFCRS). This case report emphasizes the benefit of ECT in the treatment of catatonic symptoms in an adolescent patient with schizophrenic illness.

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