Botulinum toxin injection for chronic anal fissure: a prospective controlled study with long follow-up.

BACKGROUND: Botulinum toxin is an effective therapeutic option for chronic anal fissure. However, there is no evidence about treatment standardization and long-term follow-up. We aimed to evaluate the short- and long-term efficacy and safety of botulinum toxin compared to close lateral internal sphincterotomy, with a 5-year follow-up. METHODS: This was a prospective, controlled, single-center study conducted at University Hospital of Ferrara, Ferrara, Italy. The primary outcome was fissure healing at 1 month. Secondary outcomes were Quality-of-Life (QoL) at 1 month and after 5 years, and fissure recurrence at 6 months and 5 years. RESULTS: A total of 59 patients received botulinum toxin injection (Botox), and 32 underwent lateral internal sphincterotomy. At 1 month after treatments, postoperative pain decreased faster and significantly more in the Botox group (30 vs. 60 mm; P<0.001); fissure re-epithelization was observed in 59.4% of the surgical group compared to 25.4% of Botox (P=0.0001). Anal sphincter pressures decreased more in surgical group (P=0.044), although severe anal incontinence was present only in this subset (6.2%; P=0.041). Compared to surgery, patients who received Botox had higher satisfaction rates (P<0.001). Fissure recurrence at 6 months was more common in Botox than surgical group (16.9% vs. 3.2%, respectively; P=0.053). The overall healing rate improved in all patients and persisted at 12 months and 5 years in both groups with overall high patient satisfaction despite mild anal incontinence in 21.8% in the surgery group (P<0.05). CONCLUSIONS: Botox, rather than surgery, should be considered the first-line treatment for chronic anal fissure.

The Incidence of Myasthenia Gravis in the Province of Ferrara, Italy, in the Period of 2008-2022: An Update on a 40-Year Observation and the Influence of the COVID-19 Pandemic.

Myasthenia gravis (MG) is the most common neuromuscular junction disorder. We evaluated the MG incidence rate in the province of Ferrara, Northern Italy, over two time frames (2008-2018 and 2019-2022, i.e., the COVID-19 pandemic) and considered early-onset (EOMG), late-onset (LOMG), and thymoma- and non-thymoma-associated MG. Moreover, in the second period, we assessed its possible relationship with SARS-CoV-2 infection or COVID-19 vaccination. We used a complete enumeration approach to estimate the MG incidence and its temporal trend. For the period of 2008-18, 106 new cases were identified (mean incidence rate 2.7/100,000 people). The highest rates were observed for the over-70 age group and in rural areas, with 17% of thymoma-associated MG. During the COVID-19 period, 29 new cases were identified (average incidence rate 2.1/100,000 people), showing a marked (though not statistically significant) decrease in the mean annual incidence compared to the previous period. Again, the highest rate was observed for the over-70 age group. The first period was in line with our previous observations for the period between 1985 and 2007, highlighting a rising incidence of LOMG and a marked decrease in EOMG. During the COVID-19 period, incidence rates were lower in the first years whereas, when the pandemic ended, the previous trend was confirmed.

Report of a novel ATP7A mutation causing distal motor neuropathy.

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies. A novel missense mutation (p.A991D) was identified in the X-linked ATP7A gene, segregating in both brothers and inherited from their healthy mother. Biochemical studies on patients' blood samples showed reduced serum copper and ceruloplasmin levels. Clinical and neurophysiological evaluation documented dysautonomic signs. Quantitative evaluation of skin innervation disclosed a small fiber neuropathy with prevalent autonomic involvement. Mutations in the ATP7A gene, encoding for a copper-transporting ATPase, have been associated with the severe infantile neurodegenerative Menkes disease and in its milder variant, the Occipital Horn Syndrome. Only two ATP7A mutations were previously reported as causing, a pure axonal distal motor neuropathy (dHMN-SMAX3). The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome.

Is the resection of gliomas in Wernicke's area reliable? : Wernicke's area resection.

Wernicke's area was, for a long time, considered a non-removable area and patients affected by low-grade gliomas (LGGs) or high-grade gliomas (HGGs) in this region were considered inoperable. Several studies have demonstrated a large functional reshaping of language networks in patients affected by gliomas or acute stroke involving Wernicke's territories, and the complete resection of this region invaded by LGG has recently been reported. We report our experience in the removal of Wernicke's territories invaded by gliomas. Four patients underwent awake surgery, with neuropsychological and neurophysiological monitoring and direct cortico-subcortical bipolar stimulation, for resection of LGG (one case) and HGGs (three cases) invading Wernicke's territories. Resection rates were evaluated by means of magnetic resonance imaging (MRI) and computed tomography (CT) perfusion for LGG and HGGs, respectively. HGGs were totally resected and LGG was partially resected (67%), according to functional limits. No patients reported neurological deficit. The patient affected by LGG underwent postoperative chemotherapy. Two of the patients harbouring HGGs died 21 and 23 months after surgery and postoperative adjuvant treatment, respectively. The third one is still alive and progression-free 21 months after surgery. Awake surgery is a reliable and effective technique for resection of gliomas invading Wernicke's territories without postoperative permanent deficit. LGGs in this region can safely be removed, according to the functional subcortical boundaries, allowing postoperative adjuvant treatment, functional reshaping and multi-step surgery. HGGs, instead, can be completely removed without deficits and sometimes beyond the contrast enhancement area, allowing the best possible oncological prognosis for the patients.