ABSTRACT
Tri-plane corrective Lapidus surgery has been described as advantageous with respect to its anatomic basis and outcomes. Because the procedure has been broadly publicized, changes in overall Lapidus procedure rates due to increased numbers of patients opting for the tri-plane approach could have occurred. Data supporting this possibility appears lacking. We employed official personnel and health records of the total active-duty US military to conduct a retrospective cohort study of Lapidus surgery rates before and after the advent of the tri-plane corrective Lapidus procedure. Least-squares and locally-weighted scatterplot smoother regression functions were used to confirm time trends. Sociodemographic and occupational traits of Lapidus patients were compared using 2-sided t tests and chi square tests. Lapidus surgery rates among hallux valgus patients decreased during 2014 to 2016 and increased during 2017 to 2021. While multiple factors might explain these trends, they coincide with the advent of and advocacy for tri-plane Lapidus surgery. The results support the possibility that its rise influenced overall Lapidus rates in this population. As these findings represent limited evidence of such an influence, further research is required to confirm a causal link. If such a link is found, and if the ongoing research suggests that superior outcomes are associated with tri-plane Lapidus surgery, substantial implications could exist for this population. Benefits might include enhanced medical readiness due to the importance of lower extremity function during military duties. Additional research is needed to confirm the impact of the procedure and to determine whether Lapidus surgery rate patterns in civilian populations mirror these findings.
ABSTRACT
Introduction/Background: Antiphospholipid syndrome (APS) is a rare autoimmune multisystem disease characterised by thrombosis and pregnancy morbidity in the presence of persistently elevated titres of: lupus anticoagulant, anticardiolipin and/or anti-glycoprotein 1. It may be primary (occurring alone) or secondary (in combination with another disease, most commonly systemic lupus erythematosus (SLE)). Recent publications highlighted clinical criteria limitations for children and raised awareness of the burden and prevalence of non-criteria manifestations in this population. This case report adds further weight to the need to raise multi-specialty awareness of non-criteria manifestations to aid recognition and treatment of this rare condition with potentially severe sequelae. Description/Method: 13-year-old female with SLE diagnosed aged 8 in India with bilateral optic neuritis occurring two months later. ANA positive at diagnosis with low complement and thrombocytopenia. Treated with prednisolone and hydroxychloroquine. Patient moved to the UK aged 9;initial abnormal bloods: mildly positive ANA (ENA negative), thrombocytopenia, strong lupus anticoagulant. As serology not strongly suggestive and optic neuritis rare in lupus diagnosis questioned. Ophthalmology review confirmed bilateral optic atrophy without evidence of previous vasculitis. There was debate whether the postretinal demyelination was due to antiphospholipid syndrome or a primary demyelinating condition. Hydroxychloroquine stopped and azathioprine started. Following normal neurology investigations (brain, spine MRI/MRV/MRA) concluded if patient developed new APSrelated symptoms or worsening visual evoked potentials anticoagulation would be discussed. Patient remained stable over four years with chronic thrombocytopenia and ESR persistently elevated. Azathioprine changed to Mycophenolate mofetil (MMF) due to side effects. Routine medication monitoring bloods in 2022 showed ESR 97, CRP 78, Platelets 61. Review identified vasculitic rash on soles of both feet with palpable nodules and normal pulses. Further investigation confirmed antiphospholipid antibody triple positivity. Aspirin commenced, hydroxychloroquine restarted, MMF dose increased and rituximab administered. Left foot rash settled but right progressed with toe discolouration and numbness. Skin biopsy considered but not performed due to skin integrity concerns. Foot pulses remained present and normal. Bilateral lower limb doppler reported as normal;increased symptoms resulted in CT angiogram which revealed bilateral non-occlusive popliteal thrombus and left pulmonary embolus. Subsequent echocardiogram was normal. Patient was anticoagulated with low molecular weight heparin followed by warfarin. Vascular surgical team advocated medical management and patient received seven infusions of Iloprost followed by Sildenafil. She achieved near total resolution of skin changes to toes with only minimal loss of skin over tip of right great toe. Patient will now require long-termanticoagulation. Discussion/Results: APS was considered in initial differential diagnosis but patient did not meet current clinical criteria as no past evidence of thrombosis. Lupus anticoagulant was consistently strongly positive and anticardiolipin repeatedly negative. As anti-B2 glycoprotein 1 antibody is not routinely tested and must be verbally requested, it was only checked once (negative) prior to discovery of triple positivity. ANA reported as strongly positive at time of SLE diagnosis but reviewing original notes from India titre was 1:100 and therefore not highly convincing. ENA negative and complement and white cell count normal on repeat testing since. Therefore, it is probable that this patient has primary APS as opposed to secondary APS in association with SLE. However, it is possible that this patient may develop more symptoms of SLE over time. When this patient presented with foot rash there were high numbers of children presenting with varying severity of painful, itchy toes coined 'covid toes' due to suspected lin to SARS-CoV-2 infection. Patient had exposure history, and COVID antibody serology was difficult to interpret due to recent vaccination. Dermatology found appearance to be consistent with 'covid toes' and advised supportive treatment. The triple APS antibody positivity result provided probable aetiology. Providing evidence of thrombus was problematic with false reassurance from apparently normal lower limb arterial doppler when actually popliteal arteries were not checked in view of the presence of normal flow proximally at the groin and distally in the feet. This case highlights the need to continue to search for thrombus in presence of high titres antiphospholipid antibodies and particularly in the case of triple positivity as although patient presented with colour change to toes, she was entirely asymptomatic from her PE and her left foot improved spontaneously despite a left popliteal thrombus also being present. Key learning points/Conclusion: Non-criteria manifestation of thrombocytopenia (occurs in 25% paediatric APS patients) was present throughout and patient had past history of haematuria (a recognised renal non-criteria manifestation). A paediatric specific APS criteria including these may have resulted in earlier detection of triple antiphospholipid antibody positivity and thus earlier treatment escalation and possible avoidance of thrombus. It has been reported that a high proportion of children with positive antiphospholipid antibodies don't develop a thrombus. However, it is interesting that our patient was entirely asymptomatic from her pulmonary embolus which was an incidental finding on her CT angiogram. This prompts a discussion about how much imaging should be performed in those with high levels of persistent positive antiphospholipid antibodies. Rituximab resulted in normalisation of platelet count and ESR for the first time since initial presentation. Anticardiolipin antibodies normalised, lupus anticoagulant decreased from strong to moderate and anti- B2 glycoprotein levels decreased but remained positive. Rituximab is a recognised treatment for catastrophic antiphospholipid syndrome (CAPS) but not routinely used in APS. The consistently raised ESR in an apparently clinically well patient is a reminder to continue to search for causes of inflammation. As the CRP was largely in normal range, this demonstrates the unique value of the ESR. In view of anti-B2 glycoprotein 1 antibody requiring to be verbally requested, discussions are ongoing with the laboratory department regarding the possibility of electronic request and a comment with recommendation to check other two antiphospholipid antibodies following one positive antibody result. As a result of this case, a plan will be put in place to ensure annual screening of antiphospholipid antibodies in all juvenile SLE patients in our care. It is hoped that this case report promotes discussion amongst the paediatric rheumatology community regarding further research required for development of paediatric specific APS criteria and management.
ABSTRACT
Case Diagnosis: Managing myasthenia gravis (MG) crisis and preventing prolonged hospital stay in a patient with recent surgery and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia via intravenous immune globulin (IVIG) infusion during inpatient rehabilitation. Case Description or Program Description: A 62-year-old male with past medical history of MG, human immunodeficiency virus, osteoporosis, Sjogren's disease, diabetes, peripheral artery disease, and prior left above the knee amputation was admitted to inpatient rehabilitation following SARS-CoV-2 pneumonia, right lower extremity bypass grafting and right great toe amputation secondary to worsening peripheral vascular disease and gangrene. Course was notable for worsening lethargy, vision complaints, and supplemental oxygen requirement. Physical exam was below baseline and notable for bilateral fatiguable ptosis with curtain sign, positive Cogan lid twitch, and eye closure muscle strength graded 4+/5. Patient responded well to IVIG infusion for suspected myasthenic crisis. Patient later developed scrotal lesions which were treated with intravenous acyclovir given high suspicion of herpes simplex virus in the setting of immunosuppression. Setting(s): Inpatient Rehabilitation Assessment/Results: Patient received 5 days of IVIG infusion for myasthenic crisis secondary to recent surgery and SARS-CoV-2 pneumonia. Despite multiple complications, the patient did not require transfer to acute care for medical management and met inpatient goals prior to discharge. Discussion (relevance): During the pandemic, rehabilitation facilities have noted more cases complicated by the effects of concomitant SARS-CoV-2 infection and the impact it has on the immunosuppressed population. Of note, double insults like surgery and infection can trigger flares in patients with autoimmune diseases. This case highlights the benefits of providing comprehensive resources during inpatient rehabilitation to avoid disruption of care, prolonged hospitalization, and additional costs. Conclusion(s): This case study demonstrates the higher level of medical diagnosis and management capable in the acute inpatient rehabilitation setting to facilitate a complex patient's rehabilitation course without interruption.
ABSTRACT
CASE: A 72 year old male presented to the outpatient clinic with a “vaccine reaction” after he developed a left arm rash following his Moderna COVID-19 booster. He had received the Moderna vaccines in March & April with the only side effect being arm soreness. On 10/30/2021, he received his booster in his lateral left upper arm. Three days later, he reported arm soreness that progressed in intensity by day 6 and developed a rash. Patient had no prior history of shingles and had received the SHINGRIX vaccine. Medical history was remarkable for subtotal colectomy with ileostomy 2/2 to Crohn's disease, stage III CKD, hypertension, HLD, amputations of the right big toe and left metatarsal 2/2 to osteomyelitis. Home medications included daily allopurinol 100mg, amlodipine 5mg, mesalamine 1,000 mg and octreotide 200 mcg/mL injection 0.5mL SQ BID. Presenting vital signs were normal. A physical exam revealed vesicles on an erythematous base in a C5 dermatome distribution. Incidentally, there was a concentration of vesicles located at the Moderna Booster vaccine site. Rash collected in groups of vesicles on the anterior forearm. Due to delay in presentation and stage III CKD, antivirals were not prescribed. Patient was prescribed Gabapentin 300mg nightly for pain and instructed to continue OTC Tylenol. After several weeks the rash resolved and pain subsided. IMPACT/DISCUSSION: Approximately 4% of patients with a history of Varicella develop a recurrent episode later in life with people who are immunosuppressed most affected. Possible triggers of zoster (HZ) include external reexposure to the virus, acute or chronic diseases such as malignancies or infections (i.e COVID-19), medications and stress. As of 12/5/21, the Vaccine Adverse Event Report System (VAERS) reported shingles in 1200 patients after receiving Pfizer vaccine, 1201 Moderna, and 1203 in Janssen vaccine recipients. While these reports are unable to be validated, it is important for clinicians to recognize the suggested relationship. Hypotheses of why our patient developed shingles include: 1) the immune activation from the vaccine activated dormant varicella, 2) the patient being older & immunocompromised puts him at a higher risk of developing HZ in general, and 3) the vaccine triggers a transient lymphopenia similar to being infected with COVID-19 and lymphopenia causes reactivation. As we continue to reach higher percentages of individuals receiving vaccines, we likely will continue to encounter cases such as described. CONCLUSION: It is important for clinicians to be aware of HZ reaction post COVID vaccination and to have this in their differential when a patient complains of a “reaction” to the vaccine. We regret that the patient being mis-triaged as an “allergic reaction” led to the patient being evaluated outside of the possible window of acute treatment of HZ. By describing this case we hope clinicians will be more aware of this relationship and prevent delay to treatment or misdiagnosis.
ABSTRACT
Background: Freeman-Sheldon syndrome [distal arthrogryposis type 2A (OMIM #193700), DA2A, Freeman-Burian syndrome] is a rare autosomal dominant multiple pterygium syndrome caused by alterations in MYH3. The phenotypic features, particularly of the face, are distinct and easily recognizable, and the diagnosis can be confirmed with molecular gene analysis. Fetal ultrasound imaging may provide important diagnostic clues to facilitate the diagnostic process. Informed consent and parental permission were provided by the parents. Case presentation: The infant’s mother presented for a Maternal Fetal Medicine genetic counseling telehealth appointment (due to COVID-19 pandemic restrictions) as a G7P2132, 32-year old female who had insulin-dependent diabetes and thrombocytosis. Her partner was a 24-year old male with a history of hearing loss, a V-shaped palate, and a lower lip cleft. Gestational age was 14 4/7 weeks and the indications were: increased nuchal translucency, paternal complex medical history, maternal G6PD heterozygote, and recurrent pregnancy loss. During the genetic counseling session, the following were addressed: 1) Maternal heterozygote status for G6PD indicated that if the fetus was male, there was a 50% chance he would be affected with G6PD-deficiency;2) Increased nuchal translucency on fetal ultrasound (US) with measurement at 98th percentile is associated with an increased risk of chromosomal abnormalities, microdeletion/duplications, and Noonan syndrome. The patient reportedly had low risk cell-free DNA but results were not available to the counselor at the time of consult. The option for additional genetic screening and diagnostic testing was declined;3) Three first trimester pregnancy losses with the father of this baby (FOB) were addressed, and parents deferred chromosome analyses at the time;4) Mother shared FOB’s complex history of bilateral sensorineural hearing loss, V-shaped cleft palate, lower lip cleft, and micrognathia. However, father was not present during the telehealth encounter. Mother was counseled regarding the possibility of an autosomal dominant condition with the potential risk to the pregnancy of up to 50%. It was recommended that the FOB have a clinical genetics evaluation, which could potentially provide a specific diagnosis and inform recurrence risk and management guidance. Follow-up MFM genetic counseling telephone visit occurred with the mother at 31 6/7 weeks gestation due to multiple congenital anomalies evident on fetal ultrasound. A 25 week fetal ultrasound revealed hypotelorism and a thickened nuchal translucency. A repeat study at 29 weeks revealed a V-shaped palate with a possible cleft, micrognathia, and midline mandibular cleft. FOB’s history was revisited. It was determined that he had 3 previous “no shows” to Genetics clinic appointments and did not pursue evaluation after the last counseling appointment. Again, it was emphasized that in order to best make a diagnosis for the family, an affected person would need to undergo a thorough evaluation, including medical and family history review, physical examination, and any indicated genetic testing. The parents were comfortable with the likelihood that the baby had the same condition as the father, but variable expressivity and broad range pf phenotypic presentation were explained. Recommendations for postnatal evaluation of the infant and pertinent genetic testing were provided. Consultative Genetics evaluation of the infant at 2 days of age revealed a short, broad forehead with supraorbital fullness leading to a horizontal brow indentation;mask-like facial appearance;hypotelorism;very deep set eyes with blepharophimosis;deep, creased nasal bridge;small, upturned nose with hypoplastic alae and narrow nares;microstomia with pursed lips;glossoptosis;micrognathia;2 deep vertical chin creases;short neck with excess nuchal skin;inverted and wide spaced nipples;clenched hands with 5th digits overlying 4th and 2nd overlying 3rd, bilaterally;bilateral vertical talus;2nd toes longer and overlying rd toes;clinodactyly of 4th and 5th toes bilaterally;and deep gluteal crease with no visible sinus. There were no evident contractures. The father has a complex history with no medical assessments prior to age 18. He reported that he did “not look like anyone else” in his family. He has a diagnosis of autistic spectrum disorder, a submucous cleft, vision issues, hearing loss necessitating a hearing aid on the left, and a history of cholesteatomas and of mastoidectomy. On brief examination, he had a mask-like face, blepharophimosis, left microphthalmia, left esotropia, narrowing of his midface, deep vertical crease on the mandibular region, microstomia, broad great toes, single flexor creases on the thumbs, and contracture of right thumb. Maxillofacial CT of the infant revealed hypoplastic mandibular body, ramus, and condyles bilaterally with micrognathia and retrognathia;hypoplastic maxilla bilaterally;and enophthalmos with retracted appearance of globes in the bony orbits bilaterally. Multiple facial bone abnormalities were seen, including microsomia, micrognathia, retrognathia, orbital hypotelorism and enophthalmos Genetic testing was performed via a custom Whole Exome Slice at GeneDx laboratories and included the MYH3 and TNNI2 genes. Results revealed a heterozygous pathogenic change in MYH3 (c.2015 G>A;p. R6724) consistent with the diagnosis of Freeman-Sheldon syndrome. Conclusion: The presentation of “midline mandibular cleft” on fetal ultrasound was the most specific prenatal finding. This is a very rare fetal finding. Thus, it should prompt further evaluation to assess for true clefting versus ridging or creasing. Additionally, targeted assessment for other findings or clinical clues for Freeman-Sheldon syndrome, such as contractures, “windmill vane” hand, and mouth size, could aid in the differential diagnosis considerations and the diagnostic process. Admittedly, these are position and quality dependent, and are challenging to assess even in ideal situations. The phenotype of the father was immediately recognizable. However, due to COVID-19 pandemic restrictions, prior to the infant’s birth, only telehealth visits were conducted and the father’s participation was by telephone. This limited the ability to narrow the differential diagnosis without visualization of his distinct phenotypic features. Finally, missed opportunities to diagnose the father prior to this pregnancy occurred. Many clinics send “no show” letters to referring providers and patients, as we do. Emphasizing the importance of diagnosis prior to pregnancy for individuals concerned about having a genetic disorder should be considered as part of the information shared in these letters.